Gene_locus Report for: human-SERAC1
human-SERAC1 | Name | Homo sapiens (Human) Protein SERAC1 |
| Species | Homo sapiens |
| Organism | human |
| Gene_name | SERAC1 |
| Block | X |
| Family | PGAP1 |
| Disease | MEGDEL syndrome |
| Database (8) |
| Paper (23) |
| Comment | 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 |
| Protein | human-SERAC1 |
| Peptide | human-SERAC1 |
| Mutation (30) |
| Tree_node | PGAP1268926 |
|
|