about
L-glutamic acid 1507 replaced with L-lysineL-valine 187 replaced with L-aspartic acidL-proline 132 replaced with L-leucineL-alanine 1185 replaced with L-glutamic acidL-glutamic acid 382 replaced with L-lysineL-leucine 213 replaced with L-arginineL-asparagine 72 replaced with L-serineL-leucine 582 replaced with L-valineL-arginine 1379 replaced with L-cysteine
P279
P688
Monoallelic ABCC8 mutations are a common cause of diazoxide-unresponsive diffuse form of congenital hyperinsulinismReconstitution of IKATP: an inward rectifier subunit plus the sulfonylurea receptorAlternating hypoglycemia and hyperglycemia in a toddler with a homozygous p.R1419H ABCC8 mutation: an unusual clinical pictureAnkyrin-B regulates Kir6.2 membrane expression and function in heartMolecular determinants of ATP-sensitive potassium channel MgATPase activity: diabetes risk variants and diazoxide sensitivity.Conserved functional consequences of disease-associated mutations in the slide helix of Kir6.1 and Kir6.2 subunits of the ATP-sensitive potassium channel.
P921
Q50369955-96FDDD83-8CEE-4C7C-9530-B5FF4D3C6047Q50369957-5A78BFA2-17E9-40FE-BFE0-B63BD35A1E0BQ50369958-8512221A-F16F-43A0-A39D-749BB84AFFDFQ50369959-4098FD12-5CA5-471B-A6AD-0458A5E3412DQ50369960-90A63CAA-AB98-4AF4-BCBB-0A1CAC52FF7CQ50369961-41FDEB55-B1D1-4870-9B4F-9E1404AA5373Q50369962-4DDD88AA-C809-4C51-9AA3-83B2A53A383BQ50369963-A2F17703-26F3-43AF-A9BF-6974024CD526Q50369964-5227607E-D04D-4939-904E-A97C738B8C85
P279
description
humanes Protein
@de
mammalian protein found in Homo sapiens
@en
menselijk eiwit
@nl
protein
@id
protein
@sv
proteinë
@sq
protèin
@ace
protéine humaine
@fr
بروتين بشري
@ar
name
ATP binding cassette sous-famille C membre 8
@fr
ATP binding cassette subfamily C member 8
@en
ATP binding cassette subfamily C member 8
@nl
type
label
ATP binding cassette sous-famille C membre 8
@fr
ATP binding cassette subfamily C member 8
@en
ATP binding cassette subfamily C member 8
@nl
altLabel
ABCC8
@en
ATP-binding cassette sub-family C member 8
@en
ATP-binding cassette transporter sub-family C member 8
@en
ATP-binding cassette, sub-family C (CFTR/MRP), member 8
@en
sulfonylurea receptor (hyperinsulinemia)
@en
sulfonylurea receptor 1
@en
prefLabel
ATP binding cassette sous-famille C membre 8
@fr
ATP binding cassette subfamily C member 8
@en
ATP binding cassette subfamily C member 8
@nl
P361
P527
P637
P680
P681
P682
P705
P352
P637
P31
P352
P361
P527
P637
NP_001274103
NP_001338224
NP_001338225
NP_001338226
XP_016873686
XP_016873688
XP_016873690
XP_016873691
XP_016873693
P680
P681
P682
P702
P703
P705
ENSP00000303960
ENSP00000374467
ENSP00000431653
ENSP00000433638
ENSP00000434893
ENSP00000435378
ENSP00000437233
ENSP00000483031
ENSP00000493558
ENSP00000493601
P7260
3.A.1.208.4