CPT1A

Also known as carnitine palmitoyltransferase 1A (liver), CPT1, CPT1-L, L-CPT1, carnitine palmitoyltransferase 1A

protein-coding gene in the species Homo sapiens

Gene data

CPT1A

Name: carnitine palmitoyltransferase 1A
Type: protein-coding
Position: 68,754,620–68,844,410 (−)
Aliases: CPT I, CPT1, CPT1-L, CPTI-L, L-CPT1
Ensembl: ENSG00000110090
RefSeq RNA: NM_001031847.3, NM_001440358.1, NM_001440359.1, NM_001440360.1, NM_001440362.1
RefSeq protein: NP_001027017.1, NP_001427287.1, NP_001427288.1, NP_001427289.1, NP_001427291.1

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].