Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Methylation test
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Hepatic CPT-deficiency type 1A
CPT1A
Epigenetic dyslipidemia
ABCG1
CPT1A
MIR33B
SREBF1
TNIP1
TNNT1

References:

1.

Braun KV et. al. (2016) The role of DNA methylation in dyslipidaemia: A systematic review.

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2.

Pfeiffer L et. al. (2015) DNA methylation of lipid-related genes affects blood lipid levels.

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3.

None (1988) Carnitine.

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4.

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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5.

Zierz S et. al. (1985) Regulatory properties of a mutant carnitine palmitoyltransferase in human skeletal muscle.

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6.

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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7.

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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8.

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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9.

Slama A et. al. (1996) Complementation analysis of carnitine palmitoyltransferase I and II defects.

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10.

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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11.

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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12.

IJlst L et. al. (1998) Molecular basis of hepatic carnitine palmitoyltransferase I deficiency.

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13.

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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14.

Ogawa E et. al. (2002) Expression analysis of two mutations in carnitine palmitoyltransferase IA deficiency.

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15.

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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16.

Obici S et. al. (2003) Inhibition of hypothalamic carnitine palmitoyltransferase-1 decreases food intake and glucose production.

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17.

Gobin S et. al. (2003) Functional and structural basis of carnitine palmitoyltransferase 1A deficiency.

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18.

Schoors S et. al. (2015) Fatty acid carbon is essential for dNTP synthesis in endothelial cells.

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19.

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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Update: Sept. 26, 2018