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:
Related Diseases:
References:
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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
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19. |
OMIM.ORG article
Omim 107710
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20. |
Wikipedia article
Wikipedia EN (Apolipoprotein_C1)
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Update: Aug. 14, 2020