Aliases for SERAC1 Gene
External Ids for SERAC1 Gene
Previous GeneCards Identifiers for SERAC1 Gene
The protein encoded by this gene is a phosphatidylglycerol remodeling protein found at the interface of mitochondria and endoplasmic reticula, where it mediates phospholipid exchange. The encoded protein plays a major role in mitochondrial function and intracellular cholesterol trafficking. Defects in this gene are a cause of 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL). Two transcript variants, one protein-coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Aug 2012]
GeneCards Summary for SERAC1 Gene
SERAC1 (Serine Active Site Containing 1) is a Protein Coding gene. Diseases associated with SERAC1 include 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome and megdel syndrome. GO annotations related to this gene include hydrolase activity, acting on ester bonds.
UniProtKB/Swiss-Prot for SERAC1 Gene
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.