human-ABHD12

Homo sapiens (Human) abhydrolase domain-containing protein 12. Protein C20orf22, flj90542, CT022, 2-arachidonoylglycerol hydrolase, Monoacylglycerol lipase

Comment

This gene is mutated in Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC) disease. is a neurodegenerative disease. Patients present early-onset cataract and hearing loss, retinitis pigmentosa. Both the central and peripheral nervous systems are affected. Other features are demyelinating sensorimotor polyneuropathy and cerebellar ataxia. Fiskerstrand et al. identified the disease in a norwegian family. Mutations in ABHD12 cause the PHARC. Polyneuropathy and ataxia can be mild and symptomes can be close to those of Usher syndrome type 3 as shown by Eisenberg et al. . ABHD12 is a major very long chain lyso-PS lipase in primary mast cells. long-chain lyso-PSs induce secretion of pro-inflammatory cytokines in macrophage signaling and mast cell degranulation (Khandelwal 2021)

Relationship

Family : ABHD12-PHARC

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

Sequence

Peptide

MRKRTEPVAL EHERCAAAGS SSSGSAAAAL DADCRLKQNL RLTGPAAAEP RCAADAGMKR ALGRRKGVWL RLRKILFCVL GLYIAIPFLI KLCPGIQAKL IFLNFVRVPY FIDLKKPQDQ GLNHTCNYYL QPEEDVTIGV WHTVPAVWWK NAQGKDQMWY EDALASSHPI ILYLHGNAGT RGGDHRVELY KVLSSLGYHV VTFDYRGWGD SVGTPSERGM TYDALHVFDW IKARSGDNPV YIWGHSLGTG VATNLVRRLC ERETPPDALI LESPFTNIRE EAKSHPFSVI YRYFPGFDWF FLDPITSSGI KFANDENVKH ISCPLLILHA EDDPVVPFQL GRKLYSIAAP ARSFRDFKVQ FVPFHSDLGY RHKYICKSPE LPRILREFLG KSEPEHQH

References (36)

Title : Endocannabinoid 2-Arachidonoylglycerol Synthesis and Metabolism at Neuronal Nuclear Matrix Fractions Derived from Adult Rat Brain Cortex - Aretxabala_2023_Int.J.Mol.Sci_24_3165
Author(s) : Aretxabala X , Garcia Del Cano G , Barrondo S , Lopez De Jesus M , Gonzalez-Burguera I , Saumell-Esnaola M , Goicolea MA , Salles J
Ref : Int J Mol Sci , 24 : , 2023
PubMedID: 36834575
Gene_locus related to this paper: human-ABHD12 , human-DAGLA , ratno-q5ylm1 , ratno-q6ayt7

Title : Probing the Interactions of Thiazole Abietane Inhibitors with the Human Serine Hydrolases ABHD16A and ABHD12 - Ahonen_2023_ACS.Med.Chem.Lett_14_1404
Author(s) : Ahonen TJ , Ng CP , Farinha B , Almeida B , Victor BL , Reynolds C , Kalso E , Yli-Kauhaluoma J , Greaves J , Moreira VM
Ref : ACS Med Chem Lett , 14 :1404 , 2023
PubMedID: 37849541
Gene_locus related to this paper: human-ABHD12 , human-ABHD16A

Title : The loss of enzymatic activity of the PHARC associated lipase ABHD12 results in increased phagocytosis that causes neuroinflammation - Singh_2021_Eur.J.Neurosci__
Author(s) : Singh S , Kamat SS
Ref : European Journal of Neuroscience , : , 2021
PubMedID: 34727579
Gene_locus related to this paper: human-ABHD12 , mouse-abd12

Title : Fatty acid chain length drives lysophosphatidylserine-dependent immunological outputs - Khandelwal_2021_Cell.Chem.Biol__
Author(s) : Khandelwal N , Shaikh M , Mhetre A , Singh S , Sajeevan T , Joshi A , Balaji KN , Chakrapani H , Kamat SS
Ref : Cell Chemical Biology , : , 2021
PubMedID: 33571455
Gene_locus related to this paper: human-ABHD12

Title : Genotype-phenotype correlation in a novel ABHD12 mutation underlying PHARC syndrome - Thimm_2020_J.Peripher.Nerv.Syst__
Author(s) : Thimm A , Rahal A , Schoen U , Abicht A , Klebe S , Kleinschnitz C , Hagenacker T , Stettner M
Ref : J Peripher Nerv Syst , : , 2020
PubMedID: 32077159
Gene_locus related to this paper: human-ABHD12

Title : Blockade of the Lysophosphatidylserine Lipase ABHD12 Potentiates Ferroptosis in Cancer Cells - Kathman_2020_ACS.Chem.Biol_15_871
Author(s) : Kathman SG , Boshart J , Jing H , Cravatt BF
Ref : ACS Chemical Biology , 15 :871 , 2020
PubMedID: 32195565
Gene_locus related to this paper: human-ABHD12

Title : ABHD12 Knockdown Suppresses Breast Cancer Cell Proliferation, Migration and Invasion - Jun_2020_Anticancer.Res_40_2601
Author(s) : Jun S , Kim SW , Lim JY , Park SJ
Ref : Anticancer Research , 40 :2601 , 2020
PubMedID: 32366405
Gene_locus related to this paper: human-ABHD12

Title : ABHD12 and LPCAT3 Interplay Regulates a Lyso-phosphatidylserine-C20:4 Phosphatidylserine Lipid Network Implicated in Neurological Disease - Ichu_2020_Biochemistry_59_1793
Author(s) : Ichu TA , Reed A , Ogasawara D , Ulanovskaya O , Roberts A , Aguirre CA , Bar-Peled L , Gao J , Germain J , Barbas S , Masuda K , Conti B , Tontonoz P , Cravatt BF
Ref : Biochemistry , 59 :1793 , 2020
PubMedID: 32364701
Gene_locus related to this paper: human-ABHD12

Title : Mapping the neuroanatomy of ABHD16A-ABHD12 & lysophosphatidylserines provides new insights into the pathophysiology of the human neurological disorder PHARC - Singh_2020_Biochemistry_59_2299
Author(s) : Singh S , Joshi A , Kamat SS
Ref : Biochemistry , 59 :2299 , 2020
PubMedID: 32462874
Gene_locus related to this paper: human-ABHD12 , human-ABHD16A

Title : A novel ABHD12 nonsense variant in Usher syndrome type 3 family with genotype-phenotype spectrum review - Li_2019_Gene_704_113
Author(s) : Li T , Feng Y , Liu Y , He C , Liu J , Chen H , Deng Y , Li M , Li W , Song J , Niu Z , Sang S , Wen J , Men M , Chen X , Li J , Liu X , Ling J
Ref : Gene , 704 :113 , 2019
PubMedID: 30974196
Gene_locus related to this paper: human-ABHD12

Title : Discovery and Optimization of Selective and in Vivo Active Inhibitors of the Lysophosphatidylserine Lipase alpha\/beta-Hydrolase Domain-Containing 12 (ABHD12) - Ogasawara_2019_J.Med.Chem_62_1643
Author(s) : Ogasawara D , Ichu TA , Jing H , Hulce JJ , Reed A , Ulanovskaya OA , Cravatt BF
Ref : Journal of Medicinal Chemistry , 62 :1643 , 2019
PubMedID: 30720278
Gene_locus related to this paper: human-ABHD12

Title : A chemical-genetic screen identifies ABHD12 as an oxidized-phosphatidylserine lipase - Kelkar_2019_Nat.Chem.Biol_15_169
Author(s) : Kelkar DS , Ravikumar G , Mehendale N , Singh S , Joshi A , Sharma AK , Mhetre A , Rajendran A , Chakrapani H , Kamat SS
Ref : Nat Chemical Biology , 15 :169 , 2019
PubMedID: 30643283
Gene_locus related to this paper: human-ABHD12

Title : Human leukocytes differentially express endocannabinoid-glycerol lipases and hydrolyze 2-arachidonoyl-glycerol and its metabolites from the 15-lipoxygenase and cyclooxygenase pathways - Turcotte_2019_J.Leukoc.Biol_106_1337
Author(s) : Turcotte C , Dumais E , Archambault AS , Martin C , Blanchet MR , Bissonnette E , Boulet LP , Laviolette M , Di Marzo V , Flamand N
Ref : J Leukoc Biol , 106 :1337 , 2019
PubMedID: 31556464
Gene_locus related to this paper: human-ABHD6 , human-ABHD12 , human-ABHD16A , human-CES1 , human-LYPLA2 , human-PPT1

Title : Comprehensive Molecular Screening in Chinese Usher Syndrome Patients - Sun_2018_Invest.Ophthalmol.Vis.Sci_59_1229
Author(s) : Sun T , Xu K , Ren Y , Xie Y , Zhang X , Tian L , Li Y
Ref : Invest Ophthalmol Vis Sci , 59 :1229 , 2018
PubMedID: 29625443
Gene_locus related to this paper: human-ABHD12

Title : Biochemical characterization of the PHARC-associated serine hydrolase ABHD12 reveals its preference for very-long-chain lipids - Joshi_2018_J.Biol.Chem_293_16953
Author(s) : Joshi A , Shaikh M , Singh S , Rajendran A , Mhetre A , Kamat SS
Ref : Journal of Biological Chemistry , 293 :16953 , 2018
PubMedID: 30237167
Gene_locus related to this paper: human-ABHD12

Title : Selective blockade of the lyso-PS lipase ABHD12 stimulates immune responses in vivo - Ogasawara_2018_Nat.Chem.Biol_14_1099
Author(s) : Ogasawara D , Ichu TA , Vartabedian VF , Benthuysen J , Jing H , Reed A , Ulanovskaya OA , Hulce JJ , Roberts A , Brown S , Rosen H , Teijaro JR , Cravatt BF
Ref : Nat Chemical Biology , 14 :1099 , 2018
PubMedID: 30420694
Gene_locus related to this paper: human-ABHD12

Title : Structural properties and role of the endocannabinoid lipases ABHD6 and ABHD12 in lipid signalling and disease - Kind_2019_Amino.Acids_51_151
Author(s) : Kind L , Kursula P
Ref : Amino Acids , 51 :151 , 2018
PubMedID: 30564946
Gene_locus related to this paper: human-ABHD6 , human-ABHD12

Title : Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene - Frasquet_2018_J.Neurol.Sci_387_134
Author(s) : Frasquet M , Lupo V , Chumillas MJ , Vazquez-Costa JF , Espinos C , Sevilla T
Ref : Journal of Neurology Sci , 387 :134 , 2018
PubMedID: 29571850
Gene_locus related to this paper: human-ABHD12

Title : A complex homozygous mutation in ABHD12 responsible for PHARC syndrome discovered with NGS and review of the literature - Lerat_2017_J.Peripher.Nerv.Syst_22_77
Author(s) : Lerat J , Cintas P , Beauvais-Dzugan H , Magdelaine C , Sturtz F , Lia AS
Ref : J Peripher Nerv Syst , 22 :77 , 2017
PubMedID: 28448692
Gene_locus related to this paper: human-ABHD12

Title : Functional validation of ABHD12 mutations in the neurodegenerative disease PHARC - Tingaud-Sequeira_2017_Neurobiol.Dis_98_36
Author(s) : Tingaud-Sequeira A , Raldua D , Lavie J , Mathieu G , Bordier M , Knoll-Gellida A , Rambeau P , Coupry I , Andre M , Malm E , Moller C , Andreasson S , Rendtorff ND , Tranebjaerg L , Koenig M , Lacombe D , Goizet C , Babin PJ
Ref : Neurobiol Dis , 98 :36 , 2017
PubMedID: 27890673
Gene_locus related to this paper: human-ABHD12

Title : Chemical Proteomics Maps Brain Region Specific Activity of Endocannabinoid Hydrolases - Baggelaar_2017_ACS.Chem.Biol_12_852
Author(s) : Baggelaar MP , van Esbroeck AC , van Rooden EJ , Florea BI , Overkleeft HS , Marsicano G , Chaouloff F , van der Stelt M
Ref : ACS Chemical Biology , 12 :852 , 2017
PubMedID: 28106377
Gene_locus related to this paper: human-ABHD4 , human-ABHD6 , human-ABHD12 , human-DAGLA , human-MGLL

Title : Immunomodulatory lysophosphatidylserines are regulated by ABHD16A and ABHD12 interplay - Kamat_2015_Nat.Chem.Biol_11_164
Author(s) : Kamat SS , Camara K , Parsons WH , Chen DH , Dix MM , Bird TD , Howell AR , Cravatt BF
Ref : Nat Chemical Biology , 11 :164 , 2015
PubMedID: 25580854
Gene_locus related to this paper: human-ABHD12 , human-ABHD16A , mouse-abd12 , mouse-Abhd16a

Title : Novel ABHD12 mutations in PHARC patients: the differential diagnosis of deaf-blindness - Yoshimura_2015_Ann.Otol.Rhinol.Laryngol_124 Suppl 1_77S
Author(s) : Yoshimura H , Hashimoto T , Murata T , Fukushima K , Sugaya A , Nishio SY , Usami S
Ref : Ann Otol Rhinol Laryngol , 124 Suppl 1 :77S , 2015
PubMedID: 25743180
Gene_locus related to this paper: human-ABHD12

Title : Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration - Nishiguchi_2014_Ophthalmology_121_1620
Author(s) : Nishiguchi KM , Avila-Fernandez A , van Huet RA , Corton M , Perez-Carro R , Martin-Garrido E , Lopez-Molina MI , Blanco-Kelly F , Hoefsloot LH , van Zelst-Stams WA , Garcia-Ruiz PJ , Del Val J , Di Gioia SA , Klevering BJ , van de Warrenburg BP , Vazquez C , Cremers FP , Garcia-Sandoval B , Hoyng CB , Collin RW , Rivolta C , Ayuso C
Ref : Ophthalmology , 121 :1620 , 2014
PubMedID: 24697911
Gene_locus related to this paper: human-ABHD12

Title : Discovery of Triterpenoids as Reversible Inhibitors of alpha\/beta-hydrolase Domain Containing 12 (ABHD12) - Parkkari_2014_PLoS.One_9_e98286
Author(s) : Parkkari T , Haavikko R , Laitinen T , Navia-Paldanius D , Rytilahti R , Vaara M , Lehtonen M , Alakurtti S , Yli-Kauhaluoma J , Nevalainen T , Savinainen JR , Laitinen JT
Ref : PLoS ONE , 9 :e98286 , 2014
PubMedID: 24879289
Gene_locus related to this paper: human-ABHD12

Title : In vivo metabolite profiling as a means to identify uncharacterized lipase function: Recent success stories within the alpha beta hydrolase domain (ABHD) enzyme family - Thomas_2014_Biochim.Biophys.Acta_1841_1097
Author(s) : Thomas G , Brown AL , Brown JM
Ref : Biochimica & Biophysica Acta , 1841 :1097 , 2014
PubMedID: 24423940
Gene_locus related to this paper: human-ABHD3 , human-ABHD6 , human-ABHD12

Title : Robust Hydrolysis of Prostaglandin Glycerol Esters by Human Monoacylglycerol Lipase (MAGL) - Savinainen_2014_Mol.Pharmacol_86_522
Author(s) : Savinainen JR , Kansanen E , Pantsar T , Navia-Paldanius D , Parkkari T , Lehtonen M , Laitinen T , Nevalainen T , Poso A , Levonen AL , Laitinen JT
Ref : Molecular Pharmacology , 86 :522 , 2014
PubMedID: 25140003
Gene_locus related to this paper: human-ABHD6 , human-ABHD12 , human-MGLL

Title : Two Novel Mutations in ABHD12: Expansion of the Mutation Spectrum in PHARC and Assessment of Their Functional Effects - Chen_2013_Hum.Mutat_34_1672
Author(s) : Chen DH , Naydenov A , Blankman JL , Mefford HC , Davis M , Sul Y , Barloon AS , Bonkowski E , Wolff J , Matsushita M , Smith C , Cravatt BF , Mackie K , Raskind WH , Stella N , Bird TD
Ref : Hum Mutat , 34 :1672 , 2013
PubMedID: 24027063
Gene_locus related to this paper: human-ABHD12

Title : Biochemical and pharmacological characterization of human alpha\/beta-hydrolase domain containing 6 (ABHD6) and 12 (ABHD12) - Navia-Paldanius_2012_J.Lipid.Res_53_2413
Author(s) : Navia-Paldanius D , Savinainen JR , Laitinen JT
Ref : J Lipid Res , 53 :2413 , 2012
PubMedID: 22969151
Gene_locus related to this paper: human-ABHD6 , human-ABHD12

Title : The serine hydrolases MAGL, ABHD6 and ABHD12 as guardians of 2-arachidonoylglycerol signalling through cannabinoid receptors - Savinainen_2012_Acta.Physiol.(Oxf)_204_267
Author(s) : Savinainen JR , Saario SM , Laitinen JT
Ref : Acta Physiol (Oxf) , 204 :267 , 2012
PubMedID: 21418147
Gene_locus related to this paper: human-ABHD6 , human-ABHD12 , human-MGLL

Title : Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3 - Eisenberger_2012_Orphanet.J.Rare.Dis_7_59
Author(s) : Eisenberger T , Slim R , Mansour A , Nauck M , Nurnberg G , Nurnberg P , Decker C , Dafinger C , Ebermann I , Bergmann C , Bolz H
Ref : Orphanet J Rare Dis , 7 :59 , 2012
PubMedID: 22938382
Gene_locus related to this paper: human-ABHD12

Title : Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism - Fiskerstrand_2010_Am.J.Hum.Genet_87_410
Author(s) : Fiskerstrand T , H'Mida-Ben Brahim D , Johansson S , M'Zahem A , Haukanes BI , Drouot N , Zimmermann J , Cole AJ , Vedeler C , Bredrup C , Assoum M , Tazir M , Klockgether T , Hamri A , Steen VM , Boman H , Bindoff LA , Koenig M , Knappskog PM
Ref : American Journal of Human Genetics , 87 :410 , 2010
PubMedID: 20797687
Gene_locus related to this paper: human-ABHD12

Title : A novel Refsum-like disorder that maps to chromosome 20 - Fiskerstrand_2009_Neurology_72_20
Author(s) : Fiskerstrand T , Knappskog P , Majewski J , Wanders RJ , Boman H , Bindoff LA
Ref : Neurology , 72 :20 , 2009
PubMedID: 19005174
Gene_locus related to this paper: human-ABHD12

Title : A comprehensive profile of brain enzymes that hydrolyze the endocannabinoid 2-arachidonoylglycerol - Blankman_2007_Chem.Biol_14_1347
Author(s) : Blankman JL , Simon GM , Cravatt BF
Ref : Chemical Biology , 14 :1347 , 2007
PubMedID: 18096503
Gene_locus related to this paper: human-ABHD6 , human-ABHD12 , human-MGLL

Title : Complete sequencing and characterization of 21,243 full-length human cDNAs - Ota_2004_Nat.Genet_36_40
Author(s) : Ota T , Suzuki Y , Nishikawa T , Otsuki T , Sugiyama T , Irie R , Wakamatsu A , Hayashi K , Sato H , Nagai K , Kimura K , Makita H , Sekine M , Obayashi M , Nishi T , Shibahara T , Tanaka T , Ishii S , Yamamoto J , Saito K , Kawai Y , Isono Y , Nakamura Y , Nagahari K , Murakami K , Yasuda T , Iwayanagi T , Wagatsuma M , Shiratori A , Sudo H , Hosoiri T , Kaku Y , Kodaira H , Kondo H , Sugawara M , Takahashi M , Kanda K , Yokoi T , Furuya T , Kikkawa E , Omura Y , Abe K , Kamihara K , Katsuta N , Sato K , Tanikawa M , Yamazaki M , Ninomiya K , Ishibashi T , Yamashita H , Murakawa K , Fujimori K , Tanai H , Kimata M , Watanabe M , Hiraoka S , Chiba Y , Ishida S , Ono Y , Takiguchi S , Watanabe S , Yosida M , Hotuta T , Kusano J , Kanehori K , Takahashi-Fujii A , Hara H , Tanase TO , Nomura Y , Togiya S , Komai F , Hara R , Takeuchi K , Arita M , Imose N , Musashino K , Yuuki H , Oshima A , Sasaki N , Aotsuka S , Yoshikawa Y , Matsunawa H , Ichihara T , Shiohata N , Sano S , Moriya S , Momiyama H , Satoh N , Takami S , Terashima Y , Suzuki O , Nakagawa S , Senoh A , Mizoguchi H , Goto Y , Shimizu F , Wakebe H , Hishigaki H , Watanabe T , Sugiyama A , Takemoto M , Kawakami B , Watanabe K , Kumagai A , Itakura S , Fukuzumi Y , Fujimori Y , Komiyama M , Tashiro H , Tanigami A , Fujiwara T , Ono T , Yamada K , Fujii Y , Ozaki K , Hirao M , Ohmori Y , Kawabata A , Hikiji T , Kobatake N , Inagaki H , Ikema Y , Okamoto S , Okitani R , Kawakami T , Noguchi S , Itoh T , Shigeta K , Senba T , Matsumura K , Nakajima Y , Mizuno T , Morinaga M , Sasaki M , Togashi T , Oyama M , Hata H , Komatsu T , Mizushima-Sugano J , Satoh T , Shirai Y , Takahashi Y , Nakagawa K , Okumura K , Nagase T , Nomura N , Kikuchi H , Masuho Y , Yamashita R , Nakai K , Yada T , Ohara O , Isogai T , Sugano S
Ref : Nat Genet , 36 :40 , 2004
PubMedID: 14702039
Gene_locus related to this paper: human-ABHD1 , human-ABHD4 , human-ABHD12 , human-ABHD16A , human-ACOT1 , human-LDAH , human-ABHD18 , human-CES1 , human-CES4A , human-CES5A , human-CPVL , human-DAGLB , human-EPHX2 , human-KANSL3 , human-LIPA , human-LPL , human-MEST , human-NDRG1 , human-NLGN1 , human-NLGN4X , human-PRCP , human-PRSS16 , human-SERAC1 , human-TMEM53

Title : The DNA sequence and comparative analysis of human chromosome 20 - Deloukas_2001_Nature_414_865
Author(s) : Deloukas P , Matthews LH , Ashurst J , Burton J , Gilbert JG , Jones M , Stavrides G , Almeida JP , Babbage AK , Bagguley CL , Bailey J , Barlow KF , Bates KN , Beard LM , Beare DM , Beasley OP , Bird CP , Blakey SE , Bridgeman AM , Brown AJ , Buck D , Burrill W , Butler AP , Carder C , Carter NP , Chapman JC , Clamp M , Clark G , Clark LN , Clark SY , Clee CM , Clegg S , Cobley VE , Collier RE , Connor R , Corby NR , Coulson A , Coville GJ , Deadman R , Dhami P , Dunn M , Ellington AG , Frankland JA , Fraser A , French L , Garner P , Grafham DV , Griffiths C , Griffiths MN , Gwilliam R , Hall RE , Hammond S , Harley JL , Heath PD , Ho S , Holden JL , Howden PJ , Huckle E , Hunt AR , Hunt SE , Jekosch K , Johnson CM , Johnson D , Kay MP , Kimberley AM , King A , Knights A , Laird GK , Lawlor S , Lehvaslaiho MH , Leversha M , Lloyd C , Lloyd DM , Lovell JD , Marsh VL , Martin SL , McConnachie LJ , McLay K , McMurray AA , Milne S , Mistry D , Moore MJ , Mullikin JC , Nickerson T , Oliver K , Parker A , Patel R , Pearce TA , Peck AI , Phillimore BJ , Prathalingam SR , Plumb RW , Ramsay H , Rice CM , Ross MT , Scott CE , Sehra HK , Shownkeen R , Sims S , Skuce CD , Smith ML , Soderlund C , Steward CA , Sulston JE , Swann M , Sycamore N , Taylor R , Tee L , Thomas DW , Thorpe A , Tracey A , Tromans AC , Vaudin M , Wall M , Wallis JM , Whitehead SL , Whittaker P , Willey DL , Williams L , Williams SA , Wilming L , Wray PW , Hubbard T , Durbin RM , Bentley DR , Beck S , Rogers J
Ref : Nature , 414 :865 , 2001
PubMedID: 11780052
Gene_locus related to this paper: human-ABHD12 , human-ABHD16B , human-CTSA , human-NDRG3 , human-RBBP9