Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Carnitine O-Palmitoyltransferase 1, Leber-Isoform

Das CPT1A-Gen kodiert eine mitochondriales Transportprotein, welche an der beta-Oxidation von Fettsäuren beteiligt ist. Mutationen sind für den autosomal rezessiven hepatischen CPT-Mangel Typ 1A verantwortlich. Epigenetische Modifikation in diesem Gen wurde im Zusammenhang mit Fettstoffwechselstörungen beobachtet.

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Hepatischer CPT-Mangel Typ 1A
CPT1A
Epigenetische Dyslipidämie
ABCG1
CPT1A
MIR33B
SREBF1
TNIP1
TNNT1

Referenzen:

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.

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

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4.

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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5.

None (1988) Carnitine.

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6.

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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7.

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

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8.

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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9.

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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10.

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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11.

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

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12.

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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13.

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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14.

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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15.

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

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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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20.

OMIM.ORG article

Omim 600528 [^]
21.

NCBI article

NCBI 1374 [^]
22.

Orphanet article

Orphanet ID 120790 [^]
Update: 29. April 2019