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 Cpt Deficiency, Hepatic, Type Ia and Carnitine Palmitoyltransferase Ii Deficiency. Among its related pathways are Circadian rythm related genes and Glucagon signaling pathway. 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.