ATP binding cassette subfamily C member 8

Summary
Gene Symbol
  • ABCC8
Organism
Homo sapiens (human)
NCBI Gene
6833
PubChem
6833
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • ATP-binding
  • Alternative splicing
  • Cell membrane
  • Diabetes mellitus
  • Disease variant
  • Glycoprotein
  • Receptor
  • Reference proteome
  • Repeat
  • Transmembrane helix
  • Transport
Proteins
Displaying 1 entry
UniProt Protein Name
Q09428
  • Sulfonylurea receptor 1
Gene Ontology (GO)
GO Hierarchy
GO Hierarchy
OrthoDB (Group)
Group level
Eukaryota
Group Name
ABC
Functional Category
  • J: Translation, ribosomal structure and biogenesis
  • K: Transcription
  • T: Signal transduction mechanisms
Disease
Disease Ontology
Displaying entries 1 - 10 of 16 in total
DO ID Disease Name Source
DOID:0060319 cardiac arrest
DOID:0060334 transient neonatal diabetes mellitus
DOID:0060639 permanent neonatal diabetes mellitus
DOID:0070219 familial hyperinsulinemic hypoglycemia 1
DOID:0080855 Parkinsonism
DOID:0112262 leucine-sensitive hypoglycemia of infancy
DOID:10763 hypertension
DOID:11446 sciatic neuropathy
DOID:11832 visual epilepsy
DOID:13317 hyperinsulinemic hypoglycemia

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: February 17, 2025