Carnitine O-palmitoyltransferase 1, liver isoform
The CPT1A gene encodes a mitochondrial transport protein involved in beta-oxidation of fatty acids. Mutations cause autosomal recessive hepatic CPT-deficiency type 1A. Epigenetic modification of this gene was associated with dyslipidemia.
Genetests:
Related Diseases:
References:
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Pfeiffer L et al. (2015) DNA methylation of lipid-related genes affects blood lipid levels.
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Irvin MR et al. (2014) Epigenome-wide association study of fasting blood lipids in the Genetics of Lipid-lowering Drugs and Diet Network study.
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Schoors S et al. (2015) Fatty acid carbon is essential for dNTP synthesis in endothelial cells.
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Gobin S et al. (2003) Functional and structural basis of carnitine palmitoyltransferase 1A deficiency.
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Obici S et al. (2003) Inhibition of hypothalamic carnitine palmitoyltransferase-1 decreases food intake and glucose production.
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Ogawa E et al. (2002) Expression analysis of two mutations in carnitine palmitoyltransferase IA deficiency.
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Prip-Buus C et al. (2001) Molecular and enzymatic characterization of a unique carnitine palmitoyltransferase 1A mutation in the Hutterite community.
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Britton CH et al. (1997) Fine chromosome mapping of the genes for human liver and muscle carnitine palmitoyltransferase I (CPT1A and CPT1B).
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Schaefer J et al. (1997) Characterisation of carnitine palmitoyltransferases in patients with a carnitine palmitoyltransferase deficiency: implications for diagnosis and therapy.
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Slama A et al. (1996) Complementation analysis of carnitine palmitoyltransferase I and II defects.
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Esser V et al. (1993) Cloning, sequencing, and expression of a cDNA encoding rat liver carnitine palmitoyltransferase I. Direct evidence that a single polypeptide is involved in inhibitor interaction and catalytic function.
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Britton CH et al. (1995) Human liver mitochondrial carnitine palmitoyltransferase I: characterization of its cDNA and chromosomal localization and partial analysis of the gene.
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Bergstrom JD et al. (1980) Studies on carnitine palmitoyl transferase: the similar nature of CPTi (inner form) and CPTo (outer form).
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Zierz S et al. (1985) Regulatory properties of a mutant carnitine palmitoyltransferase in human skeletal muscle.
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Murthy MS et al. (1987) Malonyl-CoA binding site and the overt carnitine palmitoyltransferase activity reside on the opposite sides of the outer mitochondrial membrane.
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None (1988) Carnitine.
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Gobin S et al. (2002) Organization of the human liver carnitine palmitoyltransferase 1 gene ( CPT1A) and identification of novel mutations in hypoketotic hypoglycaemia.
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18. |
IJlst L et al. (1998) Molecular basis of hepatic carnitine palmitoyltransferase I deficiency.
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Braun KV et al. (2016) The role of DNA methylation in dyslipidaemia: A systematic review.
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OMIM.ORG article
Omim 600528
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NCBI article
NCBI 1374
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Orphanet article
Orphanet ID 120790
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Wikipedia article
Wikipedia EN (Carnitine_palmitoyltransferase_I)
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Update: Aug. 14, 2020