APOC2

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Apolipoprotein C-II
PDB rendering based on 1by6.
Available structures: 1by6, 1i5j, 1o8t, 1soh
Identifiers
Symbol(s) APOC2; MGC75082
External IDs OMIM: 608083 MGI: 88054 HomoloGene: 47928
Orthologs
Human Mouse
Entrez 344 11813
Ensembl n/a ENSMUSG00000002992
Uniprot n/a Q3UJG0
Refseq NM_000483 (mRNA)
NP_000474 (protein)		 XM_987120 (mRNA)
XP_992214 (protein)
Location n/a Chr 7: 18.83 - 18.84 Mb
Pubmed search [1] [2]

Apolipoprotein C-II, also known as APOC2, is a human gene.

The protein encoded by this gene is secreted in plasma where it is a component of very low density lipoprotein. This protein activates the enzyme lipoprotein lipase, which hydrolyzes triglycerides and thus provides free fatty acids for cells. Mutations in this gene cause hyperlipoproteinemia type IB, characterized by hypertriglyceridemia, xanthomas, and increased risk of pancreatitis and early atherosclerosis.[1]

[edit] References

  1. ^ Entrez Gene: APOC2 apolipoprotein C-II.
  • Jackson RL, Baker HN, Gilliam EB, Gotto AM (1977). "Primary structure of very low density apolipoprotein C-II of human plasma.". Proc. Natl. Acad. Sci. U.S.A. 74 (5): 1942–5. PMID 194244. 
  • Lycksell PO, Ohman A, Bengtsson-Olivecrona G, et al. (1992). "Sequence specific 1H-NMR assignments and secondary structure of a carboxy-terminal functional fragment of apolipoprotein CII.". Eur. J. Biochem. 205 (1): 223–31. PMID 1555583. 
  • Hegele RA, Connelly PW, Maguire GF, et al. (1992). "An apolipoprotein CII mutation, CIILys19----Thr' identified in patients with hyperlipidemia.". Dis. Markers 9 (2): 73–80. PMID 1782747. 
  • Crecchio C, Capurso A, Pepe G (1990). "Identification of the mutation responsible for a case of plasmatic apolipoprotein CII deficiency (Apo CII-Bari).". Biochem. Biophys. Res. Commun. 168 (3): 1118–27. PMID 1971748. 
  • Bengtsson-Olivecrona G, Sletten K (1990). "Primary structure of the bovine analogues to human apolipoproteins CII and CIII. Studies on isoforms and evidence for proteolytic processing.". Eur. J. Biochem. 192 (2): 515–21. PMID 2209608. 
  • Wei CF, Tsao YK, Robberson DL, et al. (1986). "The structure of the human apolipoprotein C-II gene. Electron microscopic analysis of RNA:DNA hybrids, complete nucleotide sequence, and identification of 5' homologous sequences among apolipoprotein genes.". J. Biol. Chem. 260 (28): 15211–21. PMID 2415514. 
  • Fojo SS, Lohse P, Parrott C, et al. (1989). "A nonsense mutation in the apolipoprotein C-IIPadova gene in a patient with apolipoprotein C-II deficiency.". J. Clin. Invest. 84 (4): 1215–9. PMID 2477392. 
  • Jackson CL, Bruns GA, Breslow JL (1986). "Isolation of cDNA and genomic clones for apolipoprotein C-II.". Meth. Enzymol. 128: 788–800. PMID 3014272. 
  • Fojo SS, Law SW, Brewer HB (1987). "The human preproapolipoprotein C-II gene. Complete nucleic acid sequence and genomic organization.". FEBS Lett. 213 (1): 221–6. PMID 3030808. 
  • Fojo SS, Stalenhoef AF, Marr K, et al. (1989). "A deletion mutation in the ApoC-II gene (ApoC-II Nijmegen) of a patient with a deficiency of apolipoprotein C-II.". J. Biol. Chem. 263 (34): 17913–6. PMID 3192518. 
  • Fojo SS, Beisiegel U, Beil U, et al. (1988). "Donor splice site mutation in the apolipoprotein (Apo) C-II gene (Apo C-IIHamburg) of a patient with Apo C-II deficiency.". J. Clin. Invest. 82 (5): 1489–94. PMID 3263393. 
  • Connelly PW, Maguire GF, Hofmann T, Little JA (1987). "Structure of apolipoprotein C-IIToronto, a nonfunctional human apolipoprotein.". Proc. Natl. Acad. Sci. U.S.A. 84 (1): 270–3. PMID 3467353. 
  • Fairwell T, Hospattankar AV, Brewer HB, Khan SA (1987). "Human plasma apolipoprotein C-II: total solid-phase synthesis and chemical and biological characterization.". Proc. Natl. Acad. Sci. U.S.A. 84 (14): 4796–800. PMID 3474626. 
  • Fojo SS, Taam L, Fairwell T, et al. (1986). "Human preproapolipoprotein C-II. Analysis of major plasma isoforms.". J. Biol. Chem. 261 (21): 9591–4. PMID 3525527. 
  • Das HK, Jackson CL, Miller DA, et al. (1987). "The human apolipoprotein C-II gene sequence contains a novel chromosome 19-specific minisatellite in its third intron.". J. Biol. Chem. 262 (10): 4787–93. PMID 3558370. 
  • Connelly PW, Maguire GF, Little JA (1988). "Apolipoprotein CIISt. Michael. Familial apolipoprotein CII deficiency associated with premature vascular disease.". J. Clin. Invest. 80 (6): 1597–606. PMID 3680515. 
  • Baggio G, Manzato E, Gabelli C, et al. (1986). "Apolipoprotein C-II deficiency syndrome. Clinical features, lipoprotein characterization, lipase activity, and correction of hypertriglyceridemia after apolipoprotein C-II administration in two affected patients.". J. Clin. Invest. 77 (2): 520–7. PMID 3944267. 
  • Menzel HJ, Kane JP, Malloy MJ, Havel RJ (1986). "A variant primary structure of apolipoprotein C-II in individuals of African descent.". J. Clin. Invest. 77 (2): 595–601. PMID 3944271. 
  • Sharpe CR, Sidoli A, Shelley CS, et al. (1984). "Human apolipoproteins AI, AII, CII and CIII. cDNA sequences and mRNA abundance.". Nucleic Acids Res. 12 (9): 3917–32. PMID 6328445. 
  • Jackson CL, Bruns GA, Breslow JL (1984). "Isolation and sequence of a human apolipoprotein CII cDNA clone and its use to isolate and map to human chromosome 19 the gene for apolipoprotein CII.". Proc. Natl. Acad. Sci. U.S.A. 81 (10): 2945–9. PMID 6328478. 
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