Homo sapiens (Human) Protein SERAC1
Serine active site-containing protein 1. Mutations of SERAC1 causes MEGDEL syndrome, a recessive disorder of dystonia and deafness with encephalopathy and Leigh-like syndrome, impaired oxidative phosphorylation and 3-methylglutaconic aciduria. Clinical features included psychomotor retardation, recurrent infections in infancy, hypoglycemia, spasticity, dystonia, sensorineural deafness, brain atrophy, and lesions on brain imaging. Laboratory studies showed increased serum lactate and alanine, urinary 3-MGA, mitochondrial oxidative phosphorylation defects, abnormal mitochondria, an abnormal phosphatidylglycerol and cardiolipin spectrum in fibroblasts, and abnormal accumulation of unesterified cholesterol within cells. old human-srac1.Only c-term PfamA PGAP1 390-549
ADVLFIHGLM GAAFKTWRQQ DSEQAVIEKP MEDEDRYTTC WPKTWLAKDC PALRIISVEY DTSLSDWRAR CPMERKSIAF RSNELLRKLR AAGVGDRPVV WISHSMGGLL VKKMLLEAST KPEMSTVINN TRGIIFYSVP HHGSRLAEYS VNIRYLLFPS LEVKELSKDS PALKTLQDDF LEFAKDKNFQ VLNFVETLPT YIGSMIKLHV VPVESADLGI GDLIPVDVNH LNICKPKKKD AFLYQRTLQF IREALAKDLE N
Title : A novel mutation in the SERAC1 gene correlates with the severe manifestation of the MEGDEL phenotype, as revealed by whole-exome sequencing - Alagoz_2020_Exp.Ther.Med_19_3505 |
Author(s) : Alagoz M , Kherad N , Turkmen S , Bulut H , Yuksel A |
Ref : Exp Ther Med , 19 :3505 , 2020 |
Abstract : Alagoz_2020_Exp.Ther.Med_19_3505 |
ESTHER : Alagoz_2020_Exp.Ther.Med_19_3505 |
PubMedSearch : Alagoz_2020_Exp.Ther.Med_19_3505 |
PubMedID: 32346411 |
Gene_locus related to this paper: human-SERAC1 |
Title : SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family - Roeben_2018_J.Med.Genet_55_39 |
Author(s) : Roeben B , Schule R , Ruf S , Bender B , Alhaddad B , Benkert T , Meitinger T , Reich S , Bohringer J , Langhans CD , Vaz FM , Wortmann SB , Marquardt T , Haack TB , Krageloh-Mann I , Schols L , Synofzik M |
Ref : Journal of Medical Genetics , 55 :39 , 2018 |
Abstract : Roeben_2018_J.Med.Genet_55_39 |
ESTHER : Roeben_2018_J.Med.Genet_55_39 |
PubMedSearch : Roeben_2018_J.Med.Genet_55_39 |
PubMedID: 28916646 |
Gene_locus related to this paper: human-SERAC1 |
Title : Novel mutations in SERAC1 gene in two Indian patients presenting with dystonia and intellectual disability - Radha Rama Devi_2018_Eur.J.Med.Genet_61_100 |
Author(s) : Radha Rama Devi A , Lingappa L |
Ref : Eur Journal of Medical Genetics , 61 :100 , 2018 |
Abstract : Radha Rama Devi_2018_Eur.J.Med.Genet_61_100 |
ESTHER : Radha Rama Devi_2018_Eur.J.Med.Genet_61_100 |
PubMedSearch : Radha Rama Devi_2018_Eur.J.Med.Genet_61_100 |
PubMedID: 28778788 |
Gene_locus related to this paper: human-SERAC1 |
Title : Rapid Resolution of Blended or Composite Multigenic Disease in Infants by Whole-Exome Sequencing - Theunissen_2017_J.Pediatr_182_371 |
Author(s) : Theunissen TE , Sallevelt SC , Hellebrekers DM , de Koning B , Hendrickx AT , van den Bosch BJ , Kamps R , Schoonderwoerd K , Szklarczyk R , Mulder-Den Hartog EN , de Coo IF , Smeets HJ |
Ref : J Pediatr , 182 :371 , 2017 |
Abstract : Theunissen_2017_J.Pediatr_182_371 |
ESTHER : Theunissen_2017_J.Pediatr_182_371 |
PubMedSearch : Theunissen_2017_J.Pediatr_182_371 |
PubMedID: 28081892 |
Gene_locus related to this paper: human-SERAC1 |
Title : MEGDEL Syndrome: Expanding the Phenotype and New Mutations - |
Author(s) : Sequeira S , Rodrigues M , Jacinto S , Wevers RA , Wortmann SB |
Ref : Neuropediatrics , 48 :382 , 2017 |
PubMedID: 28505671 |
Gene_locus related to this paper: human-SERAC1 |
Title : [MEGDEL syndrome with an SERAC1 mutation: a case report] - |
Author(s) : Chen J , Peng J , Yin F |
Ref : Zhonghua Er Ke Za Zhi , 55 :394 , 2017 |
PubMedID: 28482397 |
Gene_locus related to this paper: human-SERAC1 |
Title : Transient neonatal renal failure and massive polyuria in MEGDEL syndrome - Harbulot_2016_Mol.Genet.Metab.Rep_7_8 |
Author(s) : Harbulot C , Paquay S , Dorboz I , Pichard S , Bourillon A , Benoist JF , Jardel C , Ogier de Baulny H , Boespflug-Tanguy O , Schiff M |
Ref : Mol Genet Metab Rep , 7 :8 , 2016 |
Abstract : Harbulot_2016_Mol.Genet.Metab.Rep_7_8 |
ESTHER : Harbulot_2016_Mol.Genet.Metab.Rep_7_8 |
PubMedSearch : Harbulot_2016_Mol.Genet.Metab.Rep_7_8 |
PubMedID: 27331002 |
Gene_locus related to this paper: human-SERAC1 |
Title : First missense mutation outside of SERAC1 lipase domain affecting intracellular cholesterol trafficking - Rodriguez-Garcia_2016_Neurogenetics_17_51 |
Author(s) : Rodriguez-Garcia ME , Martin-Hernandez E , de Aragon AM , Garcia-Silva MT , Quijada-Fraile P , Arenas J , Martin MA , Martinez-Azorin F |
Ref : Neurogenetics , 17 :51 , 2016 |
Abstract : Rodriguez-Garcia_2016_Neurogenetics_17_51 |
ESTHER : Rodriguez-Garcia_2016_Neurogenetics_17_51 |
PubMedSearch : Rodriguez-Garcia_2016_Neurogenetics_17_51 |
PubMedID: 26445863 |
Gene_locus related to this paper: human-SERAC1 |
Title : New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre - Pronicka_2016_J.Transl.Med_14_174 |
Author(s) : Pronicka E , Piekutowska-Abramczuk D , Ciara E , Trubicka J , Rokicki D , Karkucinska-Wieckowska A , Pajdowska M , Jurkiewicz E , Halat P , Kosinska J , Pollak A , Rydzanicz M , Stawinski P , Pronicki M , Krajewska-Walasek M , Ploski R |
Ref : J Transl Med , 14 :174 , 2016 |
Abstract : Pronicka_2016_J.Transl.Med_14_174 |
ESTHER : Pronicka_2016_J.Transl.Med_14_174 |
PubMedSearch : Pronicka_2016_J.Transl.Med_14_174 |
PubMedID: 27290639 |
Gene_locus related to this paper: human-SERAC1 |
Title : The clinical syndrome of dystonia with anarthria\/aphonia - Ganos_2016_Parkinsonism.Relat.Disord_24_20 |
Author(s) : Ganos C , Crowe B , Stamelou M , Kresojevic N , Lukic MJ , Bras J , Guerreiro R , Taiwo F , Balint B , Batla A , Schneider SA , Erro R , Svetel M , Kostic V , Kurian MA , Bhatia KP |
Ref : Parkinsonism Relat Disord , 24 :20 , 2016 |
Abstract : Ganos_2016_Parkinsonism.Relat.Disord_24_20 |
ESTHER : Ganos_2016_Parkinsonism.Relat.Disord_24_20 |
PubMedSearch : Ganos_2016_Parkinsonism.Relat.Disord_24_20 |
PubMedID: 26924602 |
Gene_locus related to this paper: human-SERAC1 |
Title : Tubular aggregates caused by serine active site containing 1 (SERAC1) mutations in a patient with a mitochondrial encephalopathy - |
Author(s) : Wedatilake Y , Plagnol V , Anderson G , Paine SM , Clayton PT , Jacques TS , Rahman S |
Ref : Neuropathol Appl Neurobiol , 41 :399 , 2015 |
PubMedID: 25345337 |
Gene_locus related to this paper: human-SERAC1 |
Title : Two Turkish siblings with MEGDEL syndrome due to novel SERAC1 gene mutation - Unal_2015_Turk.J.Pediatr_57_388 |
Author(s) : Unal O , Ozgul RK , Yucel D , Yalnizoglu D , Tokatli A , Sivri HS , Hismi B , Coskun T , Dursun A |
Ref : Turk J Pediatr , 57 :388 , 2015 |
Abstract : Unal_2015_Turk.J.Pediatr_57_388 |
ESTHER : Unal_2015_Turk.J.Pediatr_57_388 |
PubMedSearch : Unal_2015_Turk.J.Pediatr_57_388 |
PubMedID: 27186703 |
Gene_locus related to this paper: human-SERAC1 |
Title : Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndrome - Wortmann_2015_Neuropediatrics_46_98 |
Author(s) : Wortmann SB , van Hasselt PM , Baric I , Burlina A , Darin N , Horster F , Coker M , Ucar SK , Krumina Z , Naess K , Ngu LH , Pronicka E , Riordan G , Santer R , Wassmer E , Zschocke J , Schiff M , de Meirleir L , Alowain MA , Smeitink JA , Morava E , Kozicz T , Wevers RA , Wolf NI , Willemsen MA |
Ref : Neuropediatrics , 46 :98 , 2015 |
Abstract : Wortmann_2015_Neuropediatrics_46_98 |
ESTHER : Wortmann_2015_Neuropediatrics_46_98 |
PubMedSearch : Wortmann_2015_Neuropediatrics_46_98 |
PubMedID: 25642805 |
Gene_locus related to this paper: human-SERAC1 |
Title : MEGDEL Syndrome in a Child From Palestine: Report of a Novel Mutation in SERAC1 Gene - Dweikat_2015_J.Child.Neurol_30_1053 |
Author(s) : Dweikat IM , Abdelrazeq S , Ayesh S , Jundi T |
Ref : Journal of Child Neurology , 30 :1053 , 2015 |
Abstract : Dweikat_2015_J.Child.Neurol_30_1053 |
ESTHER : Dweikat_2015_J.Child.Neurol_30_1053 |
PubMedSearch : Dweikat_2015_J.Child.Neurol_30_1053 |
PubMedID: 25051967 |
Gene_locus related to this paper: human-SERAC1 |
Title : The Expanding MEGDEL Phenotype: Optic Nerve Atrophy, Microcephaly, and Myoclonic Epilepsy in a Child with SERAC1 Mutations - Lumish_2014_JIMD.Rep_16_75 |
Author(s) : Lumish HS , Yang Y , Xia F , Wilson A , Chung WK |
Ref : JIMD Rep , 16 :75 , 2014 |
Abstract : Lumish_2014_JIMD.Rep_16_75 |
ESTHER : Lumish_2014_JIMD.Rep_16_75 |
PubMedSearch : Lumish_2014_JIMD.Rep_16_75 |
PubMedID: 24997715 |
Gene_locus related to this paper: human-SERAC1 |
Title : Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria - Tort_2013_Mol.Genet.Metab_110_73 |
Author(s) : Tort F , Garcia-Silva MT , Ferrer-Cortes X , Navarro-Sastre A , Garcia-Villoria J , Coll MJ , Vidal E , Jimenez-Almazan J , Dopazo J , Briones P , Elpeleg O , Ribes A |
Ref : Mol Genet Metab , 110 :73 , 2013 |
Abstract : Tort_2013_Mol.Genet.Metab_110_73 |
ESTHER : Tort_2013_Mol.Genet.Metab_110_73 |
PubMedSearch : Tort_2013_Mol.Genet.Metab_110_73 |
PubMedID: 23707711 |
Gene_locus related to this paper: human-SERAC1 |
Title : Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature - Wortmann_2013_J.Inherit.Metab.Dis_36_923 |
Author(s) : Wortmann SB , Duran M , Anikster Y , Barth PG , Sperl W , Zschocke J , Morava E , Wevers RA |
Ref : J Inherit Metab Dis , 36 :923 , 2013 |
Abstract : Wortmann_2013_J.Inherit.Metab.Dis_36_923 |
ESTHER : Wortmann_2013_J.Inherit.Metab.Dis_36_923 |
PubMedSearch : Wortmann_2013_J.Inherit.Metab.Dis_36_923 |
PubMedID: 23296368 |
Gene_locus related to this paper: human-SERAC1 |
Title : Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome) caused by novel mutations in SERAC1 - Sarig_2013_Am.J.Med.Genet.A_161A_2204 |
Author(s) : Sarig O , Goldsher D , Nousbeck J , Fuchs-Telem D , Cohen-Katsenelson K , Iancu TC , Manov I , Saada A , Sprecher E , Mandel H |
Ref : American Journal of Medicine Genet A , 161A :2204 , 2013 |
Abstract : Sarig_2013_Am.J.Med.Genet.A_161A_2204 |
ESTHER : Sarig_2013_Am.J.Med.Genet.A_161A_2204 |
PubMedSearch : Sarig_2013_Am.J.Med.Genet.A_161A_2204 |
PubMedID: 23918762 |
Gene_locus related to this paper: human-SERAC1 |
Title : Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness - Wortmann_2012_Nat.Genet_44_797 |
Author(s) : Wortmann SB , Vaz FM , Gardeitchik T , Vissers LE , Renkema GH , Schuurs-Hoeijmakers JH , Kulik W , Lammens M , Christin C , Kluijtmans LA , Rodenburg RJ , Nijtmans LG , Grunewald A , Klein C , Gerhold JM , Kozicz T , van Hasselt PM , Harakalova M , Kloosterman W , Baric I , Pronicka E , Ucar SK , Naess K , Singhal KK , Krumina Z , Gilissen C , van Bokhoven H , Veltman JA , Smeitink JA , Lefeber DJ , Spelbrink JN , Wevers RA , Morava E , de Brouwer AP |
Ref : Nat Genet , 44 :797 , 2012 |
Abstract : Wortmann_2012_Nat.Genet_44_797 |
ESTHER : Wortmann_2012_Nat.Genet_44_797 |
PubMedSearch : Wortmann_2012_Nat.Genet_44_797 |
PubMedID: 22683713 |
Gene_locus related to this paper: human-SERAC1 |
Title : Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation - Wortmann_2006_Mol.Genet.Metab_88_47 |
Author(s) : Wortmann S , Rodenburg RJ , Huizing M , Loupatty FJ , de Koning T , Kluijtmans LA , Engelke U , Wevers R , Smeitink JA , Morava E |
Ref : Mol Genet Metab , 88 :47 , 2006 |
Abstract : Wortmann_2006_Mol.Genet.Metab_88_47 |
ESTHER : Wortmann_2006_Mol.Genet.Metab_88_47 |
PubMedSearch : Wortmann_2006_Mol.Genet.Metab_88_47 |
PubMedID: 16527507 |
Gene_locus related to this paper: human-SERAC1 |