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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
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
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.

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

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2.

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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3.

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

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4.

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

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5.

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

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6.

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

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7.

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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8.

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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9.

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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10.

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

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11.

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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12.

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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13.

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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14.

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

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15.

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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16.

None (1988) Carnitine.

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17.

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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19.

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

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20.

OMIM.ORG article

Omim 600528 external link
21.

NCBI article

NCBI 1374 external link
22.

Orphanet article

Orphanet ID 120790 external link
23.

Wikipedia article

Wikipedia EN (Carnitine_palmitoyltransferase_I) external link
Update: Aug. 14, 2020
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