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Center for Nephrology and Metabolic Disorders
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Apolipoprotein C1

The APC1 gene encodes apolipoprotein C1 a cofactor of the CEPT related cholesterol ester transfer. It might be therefore related to HDL levels and the progression of arteriosclerotic disease.

Gene Structure

4 apolipoproteins APOE, APOC1, APOC4, and APOC2 are located in tandem in the same direction on chromosome 19 (19q13.2). APOC1 has a pseudogene (APOC1P1) located between APOC1 and APOC4. The expressed APOC1 consists of 4 exone, and exons 2-4 are coding.

Interpretation

The promotor insertion allele in combination with APOE epsilon4 is associated with Alzheimer disease.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Target mutation analysis
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Apolipoprotein deficiency
APOA5
APOB
APOC1
APOC2
APOC3
APOE
APOL1
APOM
Apolipoprotein A1 deficiency
APOA1
Apolipoprotein A2 deficiency
APOA2
Apolipoprotein F deficiency
APOF
Apolipoprotein H deficiency
APOH
CLU

References:

1.

Jong MC et al. (1999) Reversal of hyperlipidaemia in apolipoprotein C1 transgenic mice by adenovirus-mediated gene delivery of the low-density-lipoprotein receptor, but not by the very-low-density-lipoprotein receptor.

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2.

Xu Y et al. (1999) A common Hpa I RFLP of apolipoprotein C-I increases gene transcription and exhibits an ethnically distinct pattern of linkage disequilibrium with the alleles of apolipoprotein E.

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3.

Lusis AJ et al. (1986) Regional mapping of human chromosome 19: organization of genes for plasma lipid transport (APOC1, -C2, and -E and LDLR) and the genes C3, PEPD, and GPI.

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4.

Myklebost O et al. (1986) The gene for human apolipoprotein CI is located 4.3 kilobases away from the apolipoprotein E gene on chromosome 19.

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5.

Davison PJ et al. (1986) There are two gene sequences for human apolipoprotein CI (apo CI) on chromosome 19, one of which is 4 kb from the gene for apo E.

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6.

Scott J et al. (1985) Localization of genes encoding apolipoproteins CI, CII, and E to the p13----cen region of human chromosome 19.

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7.

Tata F et al. (1985) Isolation and characterisation of a cDNA clone for human apolipoprotein CI and assignment of the gene to chromosome 19.

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8.

Smit M et al. (1988) Exact localization of the familial dysbetalipoproteinemia associated HpaI restriction site in the promoter region of the APOC1 gene.

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9.

Myklebost O et al. (1988) A physical map of the apolipoprotein gene cluster on human chromosome 19.

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10.

Smit M et al. (1988) Apolipoprotein gene cluster on chromosome 19. Definite localization of the APOC2 gene and the polymorphic Hpa I site associated with type III hyperlipoproteinemia.

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11.

Lauer SJ et al. (1988) Two copies of the human apolipoprotein C-I gene are linked closely to the apolipoprotein E gene.

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12.

Zhou Q et al. (2014) Association between APOC1 polymorphism and Alzheimer's disease: a case-control study and meta-analysis.

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13.

Olsson B et al. (2010) Apolipoprotein C-I genotype and serum levels of triglycerides, C-reactive protein and coronary heart disease.

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14.

Shachter NS et al. (2005) The common insertional polymorphism in the APOC1 promoter is associated with serum apolipoprotein C-I levels in Hispanic children.

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15.

Gautier T et al. (2002) Apolipoprotein CI deficiency markedly augments plasma lipoprotein changes mediated by human cholesteryl ester transfer protein (CETP) in CETP transgenic/ApoCI-knocked out mice.

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16.

Bartrés-Faz D et al. (2001) APOE and APOC1 genetic polymorphisms in age-associated memory impairment.

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17.

Trask B et al. (1993) Fluorescence in situ hybridization mapping of human chromosome 19: cytogenetic band location of 540 cosmids and 70 genes or DNA markers.

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18.

NCBI article

NCBI 341 external link
19.

OMIM.ORG article

Omim 107710 external link
20.

Wikipedia article

Wikipedia EN (Apolipoprotein_C1) external link
Update: Aug. 14, 2020
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