Apolipoproteína C2

A apolipoproteína C2 (tamén chamada apolipoproteína C-II ou ApoC-II entre outros nomes) é unha proteína que nos humanos está codificada no xene APOC2 do cromosoma 19.

APOC2
Estruturas dispoñibles
PDB	Buscar ortólogos: PDBe, RCSB  Lista de códigos PDB 1SOH , 1BY6 , 1I5J , 1O8T
Identificadores
Nomenclatura	Outros nomes APOC2, APO-CII, APOC-II, apolipoproteína C2
Símbolo	APOC2 (HGNC: 609)
Identificadores externos	OMIM: 608083 MGI: 88054 HomoloGene: 47928 EBI: APOC2 GeneCards: Xene APOC2 UniProt: APOC2
Locus	Cr. 19 q13.32
Ontoloxía Xénica Referencias: AmiGO / QuickGO
Ortólogos
Especies	Humano Rato
Entrez	344 11813
Ensembl	Véxase HS Véxase MM
UniProt	P02655 Q05020
RefSeq (ARNm)	NM_000483 NM_001277944
RefSeq (proteína) NCBI	NP_000474 NP_001296728
Localización (UCSC)	Cr. 19: 44.95 – 44.95 Mb Cr. 7: 19.41 – 19.41 Mb
PubMed (Busca)	344 11813

Apo-CII
Estrutura de RMN da apolipoproteína C-II humana en presenza de SDS
Identificadores
Símbolo	Apo-CII
Pfam	PF05355
InterPro	IPR008019
SCOPe	1by6 / SUPFAM
Estruturas proteicas dispoñibles: Pfam   estruturas / ECOD   PDB RCSB PDB; PDBe; PDBj PDBsum resumo de estruturas

A proteína codificada por este xene é segregada no plasma onde é un compoñente das lipoproteínas de moi baixa densidade e dos quilomicrons. Esta proteína activa o encima lipoproteína lipase nos capilares, o cal hidroliza triglicéridos e así proporciona ácidos graxos libres para as células. Mutacións neste xene causan a hiperlipoproteinemia tipo IB, caracterizada por xantomas, pancreatite e hepatoesplenomegalia, pero non incrementan o risco de padecer aterosclerose. As probas de laboratorio mostraron nestes casos unha elevación dos niveis sanguíneos de triglicéridos, colesterol e quilomicrons.

Véxase tamén

Bibliografía

• 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. PMC 431048. PMID 194244. doi:10.1073/pnas.74.5.1942. 
• 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. doi:10.1111/j.1432-1033.1992.tb16772.x. 
• 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. doi:10.1016/0006-291X(90)91145-I. 
• 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. doi:10.1111/j.1432-1033.1990.tb19255.x. 
• 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. doi:10.1016/S0021-9258(18)95724-8. 
• 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. PMC 329780. PMID 2477392. doi:10.1172/JCI114287. 
• Jackson CL, Bruns GA, Breslow JL (1986). "Isolation of cDNA and genomic clones for apolipoprotein C-II". Meth. Enzymol. Methods in Enzymology 128: 788–800. ISBN 9780121820282. PMID 3014272. doi:10.1016/0076-6879(86)28106-9. 
• 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. doi:10.1016/0014-5793(87)81495-3. 
• 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. doi:10.1016/S0021-9258(19)81302-9. 
• 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. PMC 442713. PMID 3263393. doi:10.1172/JCI113756. 
• 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. PMC 304185. PMID 3467353. doi:10.1073/pnas.84.1.270. 
• 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. PMC 305192. PMID 3474626. doi:10.1073/pnas.84.14.4796. 
• 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. doi:10.1016/S0021-9258(18)67554-4. 
• 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. doi:10.1016/S0021-9258(18)61264-5. 
• 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. PMC 442428. PMID 3680515. doi:10.1172/JCI113246. 
• 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. PMC 423374. PMID 3944267. doi:10.1172/JCI112332. 
• 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. PMC 423392. PMID 3944271. doi:10.1172/JCI112342. 
• 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. PMC 318799. PMID 6328445. doi:10.1093/nar/12.9.3917. 
• 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. PMC 345197. PMID 6328478. doi:10.1073/pnas.81.10.2945. 

Ligazóns externas

• Localización no xenoma humano de APOC2 e páxina con detalles sobre o xene APOC2 no UCSC Genome Browser.