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human-PREPL

Homo sapiens (Human) PREPL Prolylendopeptidase-like KIAA0436

Comment

PREPL is localized in the cytosol and shows homology with prolyl endopeptidase (PREP\; 600400) and oligopeptidase B (EC 3.4.21.83). Jaeken et al. (2006) found that substitution of the predicted catalytic residues (ser470, asp556, and his601) by alanines resulted in loss of reactivity with a serine hydrolase-specific probe. In sharp contrast to PREP and oligopeptidase B, which require both amino- and carboxy-terminal sequences for activity, PREPL activity appeared to depend only on the carboxy-terminal domain. Jaeken et al. (2006) concluded that PREPL is a novel oligopeptidase with unique structural and functional characteristics. Trembl Q96DW7 is only a portion of this protein unknown (protein for mgc:21932).(from OMIM): Congenital myasthenic syndrome-22 (CMS22) is caused by homozygous or compound heterozygous mutation in the PREPL gene on chromosome 2p21. Homozygous deletion of both PREPL and the neighboring gene SLC3A1 causes hypotonia-cystinuria syndrome

Relationship

Family : S9N_PREPL_Peptidase_S9

Block : X

Position in NCBI Life Tree : Homo sapiens

(Below N is a link to NCBI taxonomic web page and E link to ESTHER at designed phylum.)

> cellular organisms N E > Eukaryota N E > Opisthokonta N E > Metazoa N E > Eumetazoa N E > Bilateria N E > Deuterostomia N E > Chordata N E > Craniata N E > Vertebrata N E > Gnathostomata N E > Teleostomi N E > Euteleostomi N E > Sarcopterygii N E > Dipnotetrapodomorpha N E > Tetrapoda N E > Amniota N E > Mammalia N E > Theria N E > Eutheria N E > Boreoeutheria N E > Euarchontoglires N E > Primates N E > Haplorrhini N E > Simiiformes N E > Catarrhini N E > Hominoidea N E > Hominidae N E > Homininae N E > Homo N E > Homo sapiens N E

Molecular evidence

Database

Sequence

Peptide

AGLACGDTCS PLRASGSPAC LHWFVSRAGL ILSICDLQPV KQENEKPLPE NMDAFEKVRT KLETQPQEEY EIINVEVKHG GFVYYQEGCC LVRSKDEEAD NDNYEVLFNL EELKLDQPFI DCIRVAPDEK YVAAKIRTED SEASTCVIIK LSDQPVMEAS FPNVSSFEWV KDEEDEDVLF YTFQRNLRCH DVYRATFGDN KRNERFYTEK DPSYFVFLYL TKDSRFLTIN IMNKTTSEVW LIDGLSPWDP PVLIQKRIHG VLYYVEHRDD ELYILTNVGE PTEFKLMRTA ADTPAIMNWD LFFTMKRNTK VIDLDMFKDH CVLFLKHSNL LYVNVIGLAD DSVRSLKLPP WACGFIMDTN SDPKNCPFQL CSPIRPPKYY TYKFAEGKLF EETGHEDPIT KTSRVLRLEA KSKDGKLVPM TVFHKTDSED LQKKPLLVHV YGAYGMDLKM NFRPERRVLV DDGWILAYCH VRGGGELGLQ WHADGRLTKK LNGLADLEAC IKTLHGQGFS QPSLTTLTAF SAGGVLAGAL CNSNPELVRA VTLEAPFLDV LNTMMDTTLP LTLEELEEWG NPSSDEKHKN YIKRYCPYQN IKPQHYPSIH ITAYENDERV PLKGIVSYTE KLKEAIAEHA KDTGEGYQTP NIILDIQPGG NHVIEDSHKK ITAQIKFLYE ELGLDSTSVF EDLKKYLKF

References (37)

Title : Prolyl Endopeptidase-like Deficiency Associated with Growth Hormone Deficiency - Sayol-Torres_2023_J.Clin.Res.Pediatr.Endocrinol_15_205
Author(s) : Sayol-Torres L , Valenzuela MI , Tomasini R , Fernandez-Alvarez P , Clemente M , Yeste D
Ref : J Clin Res Pediatr Endocrinol , 15 :205 , 2023
PubMedID: 34693706
Gene_locus related to this paper: human-PREPL

Title : Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes-A Comprehensive Review - Ohno_2023_Int.J.Mol.Sci_24_
Author(s) : Ohno K , Ohkawara B , Shen XM , Selcen D , Engel AG
Ref : Int J Mol Sci , 24 : , 2023
PubMedID: 36835142
Gene_locus related to this paper: human-PREPL

Title : Genome-wide screens for mitonuclear co-regulators uncover links between compartmentalized metabolism and mitochondrial gene expression - Kramer_2023_bioRxiv__
Author(s) : Kramer NJ , Prakash G , Choquet K , Soto I , Petrova B , Merens HE , Kanarek N , Churchman LS
Ref : Biorxiv , : , 2023
PubMedID: 36798306
Gene_locus related to this paper: human-PREPL

Title : Multiomics Analyses Identify Proline Endopeptidase-Like Protein As a Key Regulator of Protein Trafficking, a Pathway Underlying Alzheimer's Disease Pathogenesis - Duarte_2023_Mol.Pharmacol_104_1
Author(s) : Duarte ML , Wang M , Gomes I , Liu C , Sharma A , Fakira AK , Gupta A , Mack SM , Zhang B , Devi LA
Ref : Molecular Pharmacology , 104 :1 , 2023
PubMedID: 37147110
Gene_locus related to this paper: human-PREPL

Title : Prolyl endopeptidase-like is a (thio)esterase involved in mitochondrial respiratory chain function - Rosier_2021_iScience_24_103460
Author(s) : Rosier K , McDevitt MT , Smet J , Floyd BJ , Verschoore M , Marcaida MJ , Bingman CA , Lemmens I , Dal Peraro M , Tavernier J , Cravatt BF , Gounko NV , Vints K , Monnens Y , Bhalla K , Aerts L , Rashan EH , Vanlander AV , Van Coster R , Regal L , Pagliarini DJ , Creemers JWM
Ref : iScience , 24 :103460 , 2021
PubMedID: 34888501
Gene_locus related to this paper: human-PREPL

Title : Congenital Myasthenic Syndrome From a Single Center: Phenotypic and Genotypic features - Prior_2021_J.Child.Neurol_36_610
Author(s) : Prior DE , Ghosh PS
Ref : Journal of Child Neurology , 36 :610 , 2021
PubMedID: 33471587
Gene_locus related to this paper: human-PREPL

Title : Hypotonia-cystinuria 2p21 deletion syndrome: Intrafamilial variability of clinical expression - Towheed_2021_Ann.Clin.Transl.Neurol_8_2199
Author(s) : Towheed A , Hietanen CL , Kamath VG , Singh LN , Ho A , Engelstad K , Cornett K , Montes J , De Vivo D
Ref : Ann Clin Transl Neurol , 8 :2199 , 2021
PubMedID: 34612606
Gene_locus related to this paper: human-PREPL

Title : Clinical Application of Whole Exome Sequencing to Identify Rare but Remediable Neurologic Disorders - Kim_2020_J.Clin.Med_9_3724
Author(s) : Kim MJ , Yum MS , Seo GH , Lee Y , Jang HN , Ko TS , Lee BH
Ref : J Clin Med , 9 : , 2020
PubMedID: 33233562
Gene_locus related to this paper: human-PREPL

Title : A Family Case of Congenital Myasthenic Syndrome-22 Induced by Different Combinations of Molecular Causes in Siblings - Shchagina_2020_Genes.(Basel)_11_821
Author(s) : Shchagina O , Bessonova L , Bychkov I , Beskorovainaya T , Poliakov A
Ref : Genes (Basel) , 11 :821 , 2020
PubMedID: 32707643
Gene_locus related to this paper: human-PREPL

Title : Prolyl Endopeptidase-Like Facilitates the alpha-Synuclein Aggregation Seeding, and This Effect Is Reverted by Serine Peptidase Inhibitor PMSF - Santos_2020_Biomolecules_10_
Author(s) : Santos GS , Oyadomari WY , Carvalho EA , Torquato RS , Oliveira V
Ref : Biomolecules , 10 : , 2020
PubMedID: 32630529
Gene_locus related to this paper: human-PREPL

Title : PREPL Deficiency: A Homozygous Splice Site PREPL Mutation in a Patient With Congenital Myasthenic Syndrome and Absence of Ovaries and Hypoplasia of Uterus - Yang_2020_Front.Genet_11_198
Author(s) : Yang Q , Hua R , Qian J , Yi S , Shen F , Zhang Q , Li M , Luo J , Fan X
Ref : Front Genet , 11 :198 , 2020
PubMedID: 32218803
Gene_locus related to this paper: human-PREPL

Title : First maternal uniparental disomy for chromosome 2 with PREPL novel frameshift mutation of congenital myasthenic syndrome 22 in an infant - Zhang_2020_Mol.Genet.Genomic.Med_8_e1144
Author(s) : Zhang P , Wu B , Lu Y , Ni Q , Liu R , Zhou W , Wang H
Ref : Mol Genet Genomic Med , 8 :e1144 , 2020
PubMedID: 31985178
Gene_locus related to this paper: human-PREPL

Title : TP63-truncating variants cause isolated premature ovarian insufficiency - Tucker_2019_Hum.Mutat_40_886
Author(s) : Tucker EJ , Jaillard S , Grover SR , van den Bergen J , Robevska G , Bell KM , Sadedin S , Hanna C , Dulon J , Touraine P , Sinclair AH
Ref : Hum Mutat , 40 :886 , 2019
PubMedID: 30924587
Gene_locus related to this paper: human-PREPL

Title : A Case of Hypotonia-Cystinuria Syndrome With Genito-Urinary Malformations and Extrarenal Involvement - Taroni_2019_Front.Pediatr_7_127
Author(s) : Taroni F , Capone V , Berrettini A , De Marco EA , Manzoni GA , Montini G
Ref : Front Pediatr , 7 :127 , 2019
PubMedID: 31024870
Gene_locus related to this paper: human-PREPL

Title : Isolated PREPL deficiency associated with congenital myasthenic syndrome-22 -
Author(s) : Laugwitz L , Redler S , Buchert R , Sturm M , Zeile I , Schara U , Wieczorek D , Haack T , Distelmaier F
Ref : Klin Padiatr , 230 :281 , 2018
PubMedID: 29913539
Gene_locus related to this paper: human-PREPL

Title : PREPL deficiency: delineation of the phenotype and development of a functional blood assay - Regal_2018_Genet.Med_20_109
Author(s) : Regal L , Martensson E , Maystadt I , Voermans N , Lederer D , Burlina A , Juan Fita MJ , Hoogeboom AJM , Olsson Engman M , Hollemans T , Schouten M , Meulemans S , Jonson T , Francois I , Gil Ortega D , Kamsteeg EJ , Creemers JWM
Ref : Genet Med , 20 :109 , 2018
PubMedID: 28726805
Gene_locus related to this paper: human-PREPL

Title : The second point mutation in PREPL: a case report and literature review - Silva_2018_J.Hum.Genet_63_677
Author(s) : Silva S , Miyake N , Tapia C , Matsumoto N
Ref : J Hum Genet , 63 :677 , 2018
PubMedID: 29483676
Gene_locus related to this paper: human-PREPL

Title : PREPL deficiency with or without cystinuria causes a novel myasthenic syndrome - Regal_2014_Neurology_82_1254
Author(s) : Regal L , Shen XM , Selcen D , Verhille C , Meulemans S , Creemers JW , Engel AG
Ref : Neurology , 82 :1254 , 2014
PubMedID: 24610330
Gene_locus related to this paper: human-PREPL

Title : Deletion of PREPl causes growth impairment and hypotonia in mice - Lone_2014_PLoS.One_9_e89160
Author(s) : Lone AM , Leidl M , McFedries AK , Horner JW , Creemers J , Saghatelian A
Ref : PLoS ONE , 9 :e89160 , 2014
PubMedID: 24586561
Gene_locus related to this paper: human-PREPL

Title : Further delineation of genotype-phenotype correlation in homozygous 2p21 deletion syndromes: first description of patients without cystinuria - Bartholdi_2013_Am.J.Med.Genet.A_161a_1853
Author(s) : Bartholdi D , Asadollahi R , Oneda B , Schmitt-Mechelke T , Tonella P , Baumer A , Rauch A
Ref : American Journal of Medicine Genet A , 161a :1853 , 2013
PubMedID: 23794250
Gene_locus related to this paper: human-PREPL

Title : Trans-Golgi network morphology and sorting is regulated by prolyl-oligopeptidase-like protein PREPL and the AP-1 complex subunit 1A - Radhakrishnan_2013_J.Cell.Sci_126_1155
Author(s) : Radhakrishnan K , Baltes J , Creemers JW , Schu P
Ref : Journal of Cell Science , 126 :1155 , 2013
PubMedID: 23321636
Gene_locus related to this paper: human-PREPL

Title : Cellular and ultra structural evidence for cytoskeletal localization of prolyl endopeptidase-like protein in neurons - Morawski_2013_Neurosci_242_128
Author(s) : Morawski M , Nuytens K , Juhasz T , Zeitschel U , Seeger G , Waelkens E , Regal L , Schulz I , Arendt T , Szeltner Z , Creemers J , Rossner S
Ref : Neuroscience , 242 :128 , 2013
PubMedID: 23485813
Gene_locus related to this paper: human-PREPL

Title : Two novel deletions in hypotonia-cystinuria syndrome - Regal_2012_Mol.Genet.Metab_107_614
Author(s) : Regal L , Aydin HI , Dieltjens AM , Van Esch H , Francois I , Okur I , Zeybek C , Meulemans S , Van Mol C , Van Bruwaene L , Then SH , Jaeken J , Creemers J
Ref : Mol Genet Metab , 107 :614 , 2012
PubMedID: 22796000
Gene_locus related to this paper: human-PREPL

Title : PREPL, a prolyl endopeptidase-like enzyme by name only?--Lessons from patients - Boonen_2011_CNS.Neurol.Disord.Drug.Targets_10_355
Author(s) : Boonen K , Regal L , Jaeken J , Creemers JW
Ref : CNS Neurol Disord Drug Targets , 10 :355 , 2011
PubMedID: 21222627
Gene_locus related to this paper: human-PREPL

Title : A substrate-free activity-based protein profiling screen for the discovery of selective PREPL inhibitors - Lone_2011_J.Am.Chem.Soc_133_11665
Author(s) : Lone AM , Bachovchin DA , Westwood DB , Speers AE , Spicer TP , Fernandez-Vega V , Chase P , Hodder PS , Rosen H , Cravatt BF , Saghatelian A
Ref : Journal of the American Chemical Society , 133 :11665 , 2011
PubMedID: 21692504
Gene_locus related to this paper: human-PREPL

Title : Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome - Chabrol_2008_J.Med.Genet_45_314
Author(s) : Chabrol B , Martens K , Meulemans S , Cano A , Jaeken J , Matthijs G , Creemers JW
Ref : Journal of Medical Genetics , 45 :314 , 2008
PubMedID: 18234729
Gene_locus related to this paper: human-PREPL

Title : Multi-system disorder syndromes associated with cystinuria type I - Martens_2008_Curr.Mol.Med_8_544
Author(s) : Martens K , Jaeken J , Matthijs G , Creemers JW
Ref : Curr Mol Med , 8 :544 , 2008
PubMedID: 18781961
Gene_locus related to this paper: human-PREPL

Title : Pyrrolidinyl pyridone and pyrazinone analogues as potent inhibitors of prolyl oligopeptidase (POP) - Haffner_2008_Bioorg.Med.Chem.Lett_18_4360
Author(s) : Haffner CD , Diaz CJ , Miller AB , Reid RA , Madauss KP , Hassell A , Hanlon MH , Porter DJ , Becherer JD , Carter LH
Ref : Bioorganic & Medicinal Chemistry Lett , 18 :4360 , 2008
PubMedID: 18606544
Gene_locus related to this paper: human-PREPL

Title : Global distribution of the most prevalent deletions causing hypotonia-cystinuria syndrome - Martens_2007_Eur.J.Hum.Genet_15_1029
Author(s) : Martens K , Heulens I , Meulemans S , Zaffanello M , Tilstra D , Hes FJ , Rooman R , Francois I , de Zegher F , Jaeken J , Matthijs G , Creemers JW
Ref : Eur J Hum Genet , 15 :1029 , 2007
PubMedID: 17579669
Gene_locus related to this paper: human-PREPL

Title : Deletion of PREPL, a gene encoding a putative serine oligopeptidase, in patients with hypotonia-cystinuria syndrome - Jaeken_2006_Am.J.Hum.Genet_78_38
Author(s) : Jaeken J , Martens K , Francois I , Eyskens F , Lecointre C , Derua R , Meulemans S , Slootstra JW , Waelkens E , de Zegher F , Creemers JW , Matthijs G
Ref : American Journal of Human Genetics , 78 :38 , 2006
PubMedID: 16385448
Gene_locus related to this paper: human-PREPL

Title : PREPL: a putative novel oligopeptidase propelled into the limelight - Martens_2006_Biol.Chem_387_879
Author(s) : Martens K , Derua R , Meulemans S , Waelkens E , Jaeken J , Matthijs G , Creemers JW
Ref : Biol Chem , 387 :879 , 2006
PubMedID: 16913837
Gene_locus related to this paper: human-PREPL

Title : Generation and annotation of the DNA sequences of human chromosomes 2 and 4 - Hillier_2005_Nature_434_724
Author(s) : Hillier LW , Graves TA , Fulton RS , Fulton LA , Pepin KH , Minx P , Wagner-McPherson C , Layman D , Wylie K , Sekhon M , Becker MC , Fewell GA , Delehaunty KD , Miner TL , Nash WE , Kremitzki C , Oddy L , Du H , Sun H , Bradshaw-Cordum H , Ali J , Carter J , Cordes M , Harris A , Isak A , Van Brunt A , Nguyen C , Du F , Courtney L , Kalicki J , Ozersky P , Abbott S , Armstrong J , Belter EA , Caruso L , Cedroni M , Cotton M , Davidson T , Desai A , Elliott G , Erb T , Fronick C , Gaige T , Haakenson W , Haglund K , Holmes A , Harkins R , Kim K , Kruchowski SS , Strong CM , Grewal N , Goyea E , Hou S , Levy A , Martinka S , Mead K , McLellan MD , Meyer R , Randall-Maher J , Tomlinson C , Dauphin-Kohlberg S , Kozlowicz-Reilly A , Shah N , Swearengen-Shahid S , Snider J , Strong JT , Thompson J , Yoakum M , Leonard S , Pearman C , Trani L , Radionenko M , Waligorski JE , Wang C , Rock SM , Tin-Wollam AM , Maupin R , Latreille P , Wendl MC , Yang SP , Pohl C , Wallis JW , Spieth J , Bieri TA , Berkowicz N , Nelson JO , Osborne J , Ding L , Sabo A , Shotland Y , Sinha P , Wohldmann PE , Cook LL , Hickenbotham MT , Eldred J , Williams D , Jones TA , She X , Ciccarelli FD , Izaurralde E , Taylor J , Schmutz J , Myers RM , Cox DR , Huang X , McPherson JD , Mardis ER , Clifton SW , Warren WC , Chinwalla AT , Eddy SR , Marra MA , Ovcharenko I , Furey TS , Miller W , Eichler EE , Bork P , Suyama M , Torrents D , Waterston RH , Wilson RK
Ref : Nature , 434 :724 , 2005
PubMedID: 15815621
Gene_locus related to this paper: human-ABHD1 , human-LDAH , human-ABHD18 , human-KANSL3 , human-PGAP1 , human-PREPL

Title : The PREPL A protein, a new member of the prolyl oligopeptidase family, lacking catalytic activity - Szeltner_2005_Cell.Mol.Life.Sci_62_2376
Author(s) : Szeltner Z , Alshafee I , Juhasz T , Parvari R , Polgar L
Ref : Cell Mol Life Sciences , 62 :2376 , 2005
PubMedID: 16143824
Gene_locus related to this paper: human-PREPL

Title : The 2p21 deletion syndrome: characterization of the transcription content - Parvari_2005_Genomics_86_195
Author(s) : Parvari R , Gonen Y , Alshafee I , Buriakovsky S , Regev K , Hershkovitz E
Ref : Genomics , 86 :195 , 2005
PubMedID: 15913950
Gene_locus related to this paper: human-PREPL

Title : The sequence of the human genome - Venter_2001_Science_291_1304
Author(s) : Venter JC , Adams MD , Myers EW , Li PW , Mural RJ , Sutton GG , Smith HO , Yandell M , Evans CA , Holt RA , Gocayne JD , Amanatides P , Ballew RM , Huson DH , Wortman JR , Zhang Q , Kodira CD , Zheng XH , Chen L , Skupski M , Subramanian G , Thomas PD , Zhang J , Gabor Miklos GL , Nelson C , Broder S , Clark AG , Nadeau J , McKusick VA , Zinder N , Levine AJ , Roberts RJ , Simon M , Slayman C , Hunkapiller M , Bolanos R , Delcher A , Dew I , Fasulo D , Flanigan M , Florea L , Halpern A , Hannenhalli S , Kravitz S , Levy S , Mobarry C , Reinert K , Remington K , Abu-Threideh J , Beasley E , Biddick K , Bonazzi V , Brandon R , Cargill M , Chandramouliswaran I , Charlab R , Chaturvedi K , Deng Z , Di Francesco V , Dunn P , Eilbeck K , Evangelista C , Gabrielian AE , Gan W , Ge W , Gong F , Gu Z , Guan P , Heiman TJ , Higgins ME , Ji RR , Ke Z , Ketchum KA , Lai Z , Lei Y , Li Z , Li J , Liang Y , Lin X , Lu F , Merkulov GV , Milshina N , Moore HM , Naik AK , Narayan VA , Neelam B , Nusskern D , Rusch DB , Salzberg S , Shao W , Shue B , Sun J , Wang Z , Wang A , Wang X , Wang J , Wei M , Wides R , Xiao C , Yan C , Yao A , Ye J , Zhan M , Zhang W , Zhang H , Zhao Q , Zheng L , Zhong F , Zhong W , Zhu S , Zhao S , Gilbert D , Baumhueter S , Spier G , Carter C , Cravchik A , Woodage T , Ali F , An H , Awe A , Baldwin D , Baden H , Barnstead M , Barrow I , Beeson K , Busam D , Carver A , Center A , Cheng ML , Curry L , Danaher S , Davenport L , Desilets R , Dietz S , Dodson K , Doup L , Ferriera S , Garg N , Gluecksmann A , Hart B , Haynes J , Haynes C , Heiner C , Hladun S , Hostin D , Houck J , Howland T , Ibegwam C , Johnson J , Kalush F , Kline L , Koduru S , Love A , Mann F , May D , McCawley S , McIntosh T , McMullen I , Moy M , Moy L , Murphy B , Nelson K , Pfannkoch C , Pratts E , Puri V , Qureshi H , Reardon M , Rodriguez R , Rogers YH , Romblad D , Ruhfel B , Scott R , Sitter C , Smallwood M , Stewart E , Strong R , Suh E , Thomas R , Tint NN , Tse S , Vech C , Wang G , Wetter J , Williams S , Williams M , Windsor S , Winn-Deen E , Wolfe K , Zaveri J , Zaveri K , Abril JF , Guigo R , Campbell MJ , Sjolander KV , Karlak B , Kejariwal A , Mi H , Lazareva B , Hatton T , Narechania A , Diemer K , Muruganujan A , Guo N , Sato S , Bafna V , Istrail S , Lippert R , Schwartz R , Walenz B , Yooseph S , Allen D , Basu A , Baxendale J , Blick L , Caminha M , Carnes-Stine J , Caulk P , Chiang YH , Coyne M , Dahlke C , Mays A , Dombroski M , Donnelly M , Ely D , Esparham S , Fosler C , Gire H , Glanowski S , Glasser K , Glodek A , Gorokhov M , Graham K , Gropman B , Harris M , Heil J , Henderson S , Hoover J , Jennings D , Jordan C , Jordan J , Kasha J , Kagan L , Kraft C , Levitsky A , Lewis M , Liu X , Lopez J , Ma D , Majoros W , McDaniel J , Murphy S , Newman M , Nguyen T , Nguyen N , Nodell M , Pan S , Peck J , Peterson M , Rowe W , Sanders R , Scott J , Simpson M , Smith T , Sprague A , Stockwell T , Turner R , Venter E , Wang M , Wen M , Wu D , Wu M , Xia A , Zandieh A , Zhu X
Ref : Science , 291 :1304 , 2001
PubMedID: 11181995
Gene_locus related to this paper: human-AADAC , human-ABHD1 , human-ABHD10 , human-ABHD11 , human-ACHE , human-BCHE , human-LDAH , human-ABHD18 , human-CMBL , human-ABHD17A , human-KANSL3 , human-LIPA , human-LYPLAL1 , human-NDRG2 , human-NLGN3 , human-NLGN4X , human-NLGN4Y , human-PAFAH2 , human-PREPL , human-RBBP9 , human-SPG21

Title : A recessive contiguous gene deletion of chromosome 2p16 associated with cystinuria and a mitochondrial disease - Parvari_2001_Am.J.Hum.Genet_69_869
Author(s) : Parvari R , Brodyansky I , Elpeleg O , Moses S , Landau D , Hershkovitz E
Ref : American Journal of Human Genetics , 69 :869 , 2001
PubMedID: 11524703
Gene_locus related to this paper: human-PREPL

Title : Prediction of the coding sequences of unidentified human genes. VIII. 78 new cDNA clones from brain which code for large proteins in vitro - Ishikawa_1997_DNA.Res_4_307
Author(s) : Ishikawa K , Nagase T , Nakajima D , Seki N , Ohira M , Miyajima N , Tanaka A , Kotani H , Nomura N , Ohara O
Ref : DNA Research , 4 :307 , 1997
PubMedID: 9455477
Gene_locus related to this paper: human-PREPL