Protein-coding gene in the species Homo sapiens
Protein family
Apolipoprotein C-II (Apo-CII, or Apoc-II ), or apolipoprotein C2 is a protein that in humans is encoded by the APOC2 gene .
The protein encoded by this gene is secreted in plasma, where it is a component of very low density lipoproteins and chylomicrons . This protein activates the enzyme lipoprotein lipase in capillaries,[ 5] fatty acids and glycerols for cells. Mutations in this gene cause hyperlipoproteinemia type IB , characterized by xanthomas , pancreatitis , and hepatosplenomegaly , but no increased risk for atherosclerosis . Lab tests will show elevated blood levels of triglycerides, cholesterol, and chylomicrons[ 6]
Interactive pathway map Click on genes, proteins and metabolites below to link to respective articles. [ § 1]
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See also
References
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. Bibcode :1977PNAS...74.1942J . doi :10.1073/pnas.74.5.1942 PMC 431048 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. doi :10.1111/j.1432-1033.1992.tb16772.x 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. doi :10.1016/0006-291X(90)91145-I . 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. doi :10.1111/j.1432-1033.1990.tb19255.x 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. doi :10.1016/S0021-9258(18)95724-8 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. doi :10.1172/JCI114287 . PMC 329780 PMID 2477392 . Jackson CL, Bruns GA, Breslow JL (1986). "Isolation of cDNA and genomic clones for apolipoprotein C-II" Plasma Lipoproteins Part A: Preparation, Structure, and Molecular Biology . Methods in Enzymology. Vol. 128. Elsevier. pp. 788–800 . doi :10.1016/0076-6879(86)28106-9 . ISBN 9780121820282 . 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. doi :10.1016/0014-5793(87)81495-3 PMID 3030808 . S2CID 42223577 . 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. doi :10.1016/S0021-9258(19)81302-9 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. doi :10.1172/JCI113756 . PMC 442713 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. Bibcode :1987PNAS...84..270C . doi :10.1073/pnas.84.1.270 PMC 304185 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. Bibcode :1987PNAS...84.4796F . doi :10.1073/pnas.84.14.4796 PMC 305192 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. doi :10.1016/S0021-9258(18)67554-4 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. doi :10.1016/S0021-9258(18)61264-5 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. doi :10.1172/JCI113246 . PMC 442428 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. doi :10.1172/JCI112332 . PMC 423374 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. doi :10.1172/JCI112342 . PMC 423392 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. doi :10.1093/nar/12.9.3917 . PMC 318799 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. Bibcode :1984PNAS...81.2945J . doi :10.1073/pnas.81.10.2945 PMC 345197 PMID 6328478 .
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