Gene: CPT1A

Alternate names for this Gene: CPT1|CPT1-L|L-CPT1

Gene Summary: 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.

Gene is located in Chromosome: 11

Location in Chromosome : 11q13.3

Description of this Gene: carnitine palmitoyltransferase 1A

Type of Gene: protein-coding

rs2278907 in CPT1A gene and Bone Density PMID 29304378 2018 Life-Course Genome-wide Association Study Meta-analysis of Total Body BMD and Assessment of Age-Specific Effects.

rs148059333 in CPT1A gene and Carnitine palmitoyl transferase 1A deficiency PMID 27066452 2016 Novel Mutations in the CPT1A Gene Identified in the Patient Presenting Jaundice as the First Manifestation of Carnitine Palmitoyltransferase 1A Deficiency.

PMID 21962599 2012 Carrier frequency of a common mutation of carnitine palmitoyltransferase 1A deficiency and long-term follow-up in Finland.

PMID 15669684 2004 Successful long-term treatment of hepatic carnitine palmitoyltransferase I deficiency and a novel mutation.

PMID 12111367 2002 Expression analysis of two mutations in carnitine palmitoyltransferase IA deficiency.

PMID 9691089 1998 Molecular basis of hepatic carnitine palmitoyltransferase I deficiency.

PMID 11441142 2001 Molecular characterization of L-CPT I deficiency in six patients: insights into function of the native enzyme.

PMID 14517221 2003 Functional and structural basis of carnitine palmitoyltransferase 1A deficiency.

PMID 15110323 2004 Novel mutations in CPT 1A define molecular heterogeneity of hepatic carnitine palmitoyltransferase I deficiency.

PMID 12189492 2002 Organization of the human liver carnitine palmitoyltransferase 1 gene ( CPT1A) and identification of novel mutations in hypoketotic hypoglycaemia.

PMID 11350182 2001 Molecular and enzymatic characterization of a unique carnitine palmitoyltransferase 1A mutation in the Hutterite community.

PMID 20696606 2011 Carnitine palmitoyltransferase 1A (CPT1A) P479L prevalence in live newborns in Yukon, Northwest Territories, and Nunavut.

PMID 11350183 2001 Hepatic carnitine palmitoyl transferase 1 (CPT1 A) deficiency in North American Hutterites (Canadian and American): evidence for a founder effect and results of a pilot study on a DNA-based newborn screening program.

rs7938117 in CPT1A gene and High density lipoprotein measurement PMID 30289880 2018 Heritability informed power optimization (HIPO) leads to enhanced detection of genetic associations across multiple traits.

rs17610395 in CPT1A gene and Lipids measurement PMID 22286219 2012 Genome-wide association study identifies multiple loci influencing human serum metabolite levels.

rs7938117 in CPT1A gene and Low density lipoprotein cholesterol measurement PMID 30289880 2018 Heritability informed power optimization (HIPO) leads to enhanced detection of genetic associations across multiple traits.

rs2229738 in CPT1A gene and Serum albumin measurement PMID 22286219 2012 Genome-wide association study identifies multiple loci influencing human serum metabolite levels.

rs7938117 in CPT1A gene and Serum total cholesterol measurement PMID 30289880 2018 Heritability informed power optimization (HIPO) leads to enhanced detection of genetic associations across multiple traits.

rs7938117 in CPT1A gene and Triglycerides measurement PMID 30289880 2018 Heritability informed power optimization (HIPO) leads to enhanced detection of genetic associations across multiple traits.

rs78863347 in CPT1A gene and Uric acid measurement (procedure) PMID 31578528 2019 Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.