Carnitine Palmitoyltransferase 1A, Liver (CPT1A)

CPT1-L; Carnitine O-palmitoyltransferase I, liver isoform

SPN	R430
HGNC	2328
MGI	1098296
PubMed	14517221
RGD	2396
UniProt	P50416
Wiki	CPT1A

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. Strong expression in kidney and heart, and lower in liver and skeletal muscle.

Reference

"Human liver mitochondrial carnitine palmitoyltransferase I: characterization of its cDNA and chromosomal localization and partial analysis of the gene."
Proc. Natl. Acad. Sci. U.S.A. 92:1984-1988(1995) [PubMed] [Europe PMC] [Abstract]

"Organization of the human liver carnitine palmitoyltransferase 1 gene (CPT1A) and identification of novel mutations in hypoketotic hypoglycaemia."
Hum. Genet. 111:179-189(2002) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"An intronic peroxisome proliferator-activated receptor-binding sequence mediates fatty acid induction of the human carnitine palmitoyltransferase 1A."
J. Mol. Biol. 354:751-759(2005) [PubMed] [Europe PMC] [Abstract]

"Initial characterization of the human central proteome."
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]

"Structural model of carnitine palmitoyltransferase I based on the carnitine acetyltransferase crystal."
Biochem. J. 379:777-784(2004) [PubMed] [Europe PMC] [Abstract]

"An environment-dependent structural switch underlies the regulation of carnitine palmitoyltransferase 1A."
J. Biol. Chem. 286:42545-42554(2011) [PubMed] [Europe PMC] [Abstract]

"Molecular basis of hepatic carnitine palmitoyltransferase I deficiency."
J. Clin. Invest. 102:527-531(1998) [PubMed] [Europe PMC] [Abstract]

"Molecular characterization of L-CPT I deficiency in six patients: insights into function of the native enzyme."
J. Lipid Res. 42:1134-1142(2001) [PubMed] [Europe PMC] [Abstract]

"Molecular and enzymatic characterization of a unique carnitine palmitoyltransferase 1A mutation in the Hutterite community."
Mol. Genet. Metab. 73:46-54(2001) [PubMed] [Europe PMC] [Abstract]

"Expression analysis of two mutations in carnitine palmitoyltransferase IA deficiency."
J. Hum. Genet. 47:342-347(2002) [PubMed] [Europe PMC] [Abstract]

"Functional and structural basis of carnitine palmitoyltransferase 1A deficiency."
J. Biol. Chem. 278:50428-50434(2003) [PubMed] [Europe PMC] [Abstract]

"Successful long-term treatment of hepatic carnitine palmitoyltransferase I deficiency and a novel mutation."
J. Inherit. Metab. Dis. 27:679-684(2004) [PubMed] [Europe PMC] [Abstract]

"Novel mutations in CPT 1A define molecular heterogeneity of hepatic carnitine palmitoyltransferase I deficiency."
Mol. Genet. Metab. 82:59-63(2004) [PubMed] [Europe PMC] [Abstract]