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MGP003028

UniProt Annotations

Entry Information

Gene Name	ATP-binding cassette, sub-family C (CFTR/MRP), member 8
Protein Entry	ABCC8_HUMAN
UniProt ID	Q09428
Species	Human

Comments

Comment type	Description
Alternative Products	Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q09428-1; Sequence=Displayed; Name=2; IsoId=Q09428-2; Sequence=VSP_000055; Name=3; Synonyms=SUR1Delta2; IsoId=Q09428-3; Sequence=VSP_044090; Note=Abundant isoform with prodiabetic properties, predominant in heart.;
Disease	Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]: A rare form of diabetes distinct from childhood- onset autoimmune diabetes mellitus type 1. It is characterized by insulin-requiring hyperglycemia that is diagnosed within the first months of life. Permanent neonatal diabetes requires lifelong therapy. {ECO:0000269\|PubMed:16613899, ECO:0000269\|PubMed:16885549, ECO:0000269\|PubMed:17213273}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Disease	Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]: Most common cause of persistent hypoglycemia in infancy. Unless early and aggressive intervention is undertaken, brain damage from recurrent episodes of hypoglycemia may occur. {ECO:0000269\|PubMed:10202168, ECO:0000269\|PubMed:10334322, ECO:0000269\|PubMed:12364426, ECO:0000269\|PubMed:12941782, ECO:0000269\|PubMed:15562009, ECO:0000269\|PubMed:15579781, ECO:0000269\|PubMed:15807877, ECO:0000269\|PubMed:16357843, ECO:0000269\|PubMed:16429405, ECO:0000269\|PubMed:8751851, ECO:0000269\|PubMed:8923011, ECO:0000269\|PubMed:9618169, ECO:0000269\|PubMed:9769320}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Disease	Leucine-induced hypoglycemia (LIH) [MIM:240800]: Rare cause of hypoglycemia and is described as a condition in which symptomatic hypoglycemia is provoked by high protein feedings. Hypoglycemia is also elicited by administration of oral or intravenous infusions of a single amino acid, leucine. {ECO:0000269\|PubMed:15356046}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Disease	Transient neonatal diabetes mellitus 2 (TNDM2) [MIM:610374]: Neonatal diabetes is a form of diabetes mellitus defined by the onset of mild-to-severe hyperglycemia within the first months of life. Transient neonatal diabetes remits early, with a possible relapse during adolescence. {ECO:0000269\|PubMed:16885549}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Function	Putative subunit of the beta-cell ATP-sensitive potassium channel (KATP). Regulator of ATP-sensitive K(+) channels and insulin release.
Similarity	Belongs to the ABC transporter superfamily. ABCC family. Conjugate transporter (TC 3.A.1.208) subfamily. {ECO:0000305}.
Similarity	Contains 2 ABC transmembrane type-1 domains. {ECO:0000255\|PROSITE-ProRule:PRU00441}.
Similarity	Contains 2 ABC transporter domains. {ECO:0000255\|PROSITE-ProRule:PRU00434}.
Subcellular Location	Membrane; Multi-pass membrane protein.
Subunit	Interacts with KCNJ11.
Web Resource	Name=ABCMdb; Note=Database for mutations in ABC proteins; URL="http://abcmutations.hegelab.org/proteinDetails?uniprot_id=Q09428";