Aliases SERAC1 Human Mouse Ensembl ENSG00000122335 | Species Human Entrez 84947 | |
External IDs MGI: 2447813 HomoloGene: 41900 GeneCards: SERAC1 |
Serine active site containing 1 is a protein in humans that is encoded by the SERAC1 gene.
Clinical relevance
Mutations in this gene have been associated to impairment of both mitochondrial function and intracellular cholesterol trafficking. A mutation in this gene has been found in a patient suffering from 3-methylglutaconic aciduria.
Mutations in SERAC1 are associated to MEGDEL syndrome .
References
SERAC1 Wikipedia(Text) CC BY-SA