Aliases for CRLS1 Gene
External Ids for CRLS1 Gene
Previous HGNC Symbols for CRLS1 Gene
Previous GeneCards Identifiers for CRLS1 Gene
This gene encodes a member of the CDP-alcohol phosphatidyltransferase class-I family of proteins. The encoded enzyme catalyzes the synthesis of cardiolipin, a phospholipid component of mitochondrial membranes that is critical for mitochondrial function. [provided by RefSeq, Apr 2016]
GeneCards Summary for CRLS1 Gene
CRLS1 (Cardiolipin Synthase 1) is a Protein Coding gene. Diseases associated with CRLS1 include Catastrophic Antiphospholipid Syndrome and Muscular Dystrophy, Congenital, Megaconial Type. Among its related pathways are Metabolism and Glycerophospholipid biosynthesis. Gene Ontology (GO) annotations related to this gene include phosphotransferase activity, for other substituted phosphate groups and CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity. An important paralog of this gene is HDHD5.
UniProtKB/Swiss-Prot Summary for CRLS1 Gene
Catalyzes the synthesis of cardiolipin (CL) (diphosphatidylglycerol) by specifically transferring a phosphatidyl group from CDP-diacylglycerol to phosphatidylglycerol (PG). CL is a key phospholipid in mitochondrial membranes and plays important roles in maintaining the functional integrity and dynamics of mitochondria under both optimal and stress conditions.