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