SERAC1

Serine active site containing 1 is a is_associated_with::protein in humans that is encoded by the SERAC1 is_associated_with::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 is_associated_with::3-methylglutaconic aciduria (http://www.sciencedirect.com/science/article/pii/S1096719213001480).

Mutations in SERAC1 are associated to MEGDEL syndrome.