Aliases for CPT1A Gene
External Ids for CPT1A Gene
Previous HGNC Symbols for CPT1A Gene
Previous GeneCards Identifiers for CPT1A Gene
The mitochondrial oxidation of long-chain fatty acids is initiated by the sequential action of carnitine palmitoyltransferase I (which is located in the outer membrane and is detergent-labile) and carnitine palmitoyltransferase II (which is located in the inner membrane and is detergent-stable), together with a carnitine-acylcarnitine translocase. CPT I is the key enzyme in the carnitine-dependent transport across the mitochondrial inner membrane and its deficiency results in a decreased rate of fatty acid beta-oxidation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
GeneCards Summary for CPT1A Gene
CPT1A (Carnitine Palmitoyltransferase 1A) is a Protein Coding gene. Diseases associated with CPT1A include Carnitine Palmitoyltransferase I Deficiency and Carnitine Palmitoyltransferase Ii Deficiency, Infantile. Among its related pathways are Development_Leptin signaling via PI3K-dependent pathway and PPAR Alpha Pathway. Gene Ontology (GO) annotations related to this gene include identical protein binding and carnitine O-palmitoyltransferase activity. An important paralog of this gene is CPT1B.
UniProtKB/Swiss-Prot for CPT1A Gene
Catalyzes the transfer of the acyl group of long-chain fatty acid-CoA conjugates onto carnitine, an essential step for the mitochondrial uptake of long-chain fatty acids and their subsequent beta-oxidation in the mitochondrion. Plays an important role in triglyceride metabolism.