DISEASES

Disease-gene associations mined from literature

Literature associating SERAC1 and 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome

SERAC1 [ENSP00000356071]

Serine active site-containing protein 1; Plays an important role in the phosphatidylglycerol remodeling that is essential for both mitochondrial function and intracellular cholesterol trafficking. May catalyze the remodeling of phosphatidylglycerol and be involved in the transacylation- acylation reaction to produce phosphatidylglycerol-36:1. May be involved in bis(monoacylglycerol)phosphate biosynthetic pathway; Armadillo-like helical domain containing

Synonyms:  SERAC1,  SERAC1p,  hSERAC1,  Q5JVM6,  Q96JX3 ...

Linkouts:  STRING  Pharos  UniProt  OMIM