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Gene_locus Report for: human-SERAC1

Name Class
human-SERAC1NameHomo sapiens (Human) Protein SERAC1
SpeciesHomo sapiens
Organismhuman
Gene_nameSERAC1
BlockX
FamilyPGAP1
DiseaseMEGDEL syndrome
Database (8)
Paper (23)
CommentSerine 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
Proteinhuman-SERAC1
Peptidehuman-SERAC1
Mutation (30)
Tree_nodePGAP1268926

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Mail to: Nicolas Lenfant, Thierry Hotelier, Yves Bourne, Pascale Marchot and Arnaud Chatonnet.
Please cite: Lenfant 2013 Nucleic.Acids.Res. or Marchot Chatonnet 2012 Prot.Pept Lett.
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