ABCC8

ABCC8
Tanımlayıcılar
Başka adlar	ABCC8
Dış kimlikler	OMIM: 600509 MGI: 1352629 HomoloGene: 68048 GeneCards: ABCC8
Gen yerleşimi (İnsan)
Krom.	11. Kromozom (insan)
Bitiş	17,476,894 bç
RNA ekspresyonu deseni
	Daha çok ekspresyon verisi başvurusu
Gen ontolojisi
Moleküler işlevi	• nucleotide binding; • transmembrane transporter binding; • sulfonylurea receptor activity; • ATPase activity; • ATP binding; • ATP-activated inward rectifier potassium channel activity; • ATPase-coupled transmembrane transporter activity; • GO:0001948, GO:0016582 protein bağlanması; • potassium channel activity;
Hücresel bileşeni	• integral component of membrane; • membrane; • Hücre zarı; • inward rectifying potassium channel; • Miyolem; • mitokondri; • synaptic vesicle membrane;
Biyolojik süreci	• regulation of insulin secretion; • potassium ion transport; • GO:0072468 Sinyal transdüksiyonu; • potassium ion transmembrane transport; • transmembrane transport; • cellular glucose homeostasis; • female pregnancy; • bellek; • visual learning; • response to pH; • response to zinc ion; • negative regulation of low-density lipoprotein particle clearance; • negative regulation of angiogenesis; • response to lipopolysaccharide; • positive regulation of tumor necrosis factor production; • response to insulin; • positive regulation of potassium ion transport; • negative regulation of insulin secretion; • negative regulation of neurogenesis; • negative regulation of glial cell proliferation; • negative regulation of wound healing; • negative regulation of neuroblast migration; • cellular response to organic substance; • positive regulation of uterine smooth muscle relaxation; • positive regulation of voltage-gated potassium channel activity; • positive regulation of tight junction disassembly; • negative regulation of blood-brain barrier permeability;
	Kaynaklar:Amigo / QuickGO
Ortologlar
	6833
	20927
	ENSG00000006071
	ENSMUSG00000040136
	Q09428
	n/a
	NM_000352; NM_001287174; NM_001351295; NM_001351296; NM_001351297
	NM_011510; NM_001357538
	NP_000343; NP_001274103; NP_001338224; NP_001338225; NP_001338226
	n/a
	Vikiveri
İnsan'ı Gör/Düzenle	Fare'yi Gör/Düzenle

ATP bağlayıcı kaset taşıyıcı C alt ailesinin 8. üyesi, insanların 11. kromozomunda yer alan ABCC8 geni tarafından kodlanan bir proteindir.^[4]^[5]

Kaynakça değiştir

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000006071 - Ensembl, May 2017
^ "İnsan PubMed Başvurusu:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Fare PubMed Başvurusu:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Glaser B, Chiu KC, Anker R, Nestorowicz A, Landau H, Ben-Bassat H, ve diğerleri. (June 1994). "Familial hyperinsulinism maps to chromosome 11p14-15.1, 30 cM centromeric to the insulin gene". Nature Genetics. 7 (2). ss. 185-188. doi:10.1038/ng0694-185. PMID 7920639.
^ Thomas PM, Cote GJ, Wohllk N, Haddad B, Mathew PM, Rabl W, ve diğerleri. (April 1995). "Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy". Science. 268 (5209). ss. 426-429. Bibcode:1995Sci...268..426T. doi:10.1126/science.7716548. PMID 7716548.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000006071 - Ensembl, May 2017

[2] "İnsan PubMed Başvurusu:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[3] "Fare PubMed Başvurusu:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid7920639-4] Glaser B, Chiu KC, Anker R, Nestorowicz A, Landau H, Ben-Bassat H, ve diğerleri. (June 1994). "Familial hyperinsulinism maps to chromosome 11p14-15.1, 30 cM centromeric to the insulin gene". Nature Genetics. 7 (2). ss. 185-188. doi:10.1038/ng0694-185. PMID 7920639.

[pmid7716548-5] Thomas PM, Cote GJ, Wohllk N, Haddad B, Mathew PM, Rabl W, ve diğerleri. (April 1995). "Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy". Science. 268 (5209). ss. 426-429. Bibcode:1995Sci...268..426T. doi:10.1126/science.7716548. PMID 7716548.

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