The ABCC8 gene homepage

General information
Gene symbol ABCC8
Gene name ATP binding cassette subfamily C member 8
Chromosome 11
Chromosomal band p15.1
Imprinted Unknown
Genomic reference NG_008867.1
Transcript reference NM_000352.3
Associated with diseases HHF1, LIH, PNDM3, T2D, TNDM2
Citation reference(s) -
Curators (2) Sabine Heber and Florian Bayersdorfer
Total number of public variants reported 9
Unique public DNA variants reported 8
Individuals with public variants 0
Hidden variants -
Date created March 03, 2020
Date last updated July 29, 2024
Version ABCC8:240729

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC HGNC:59
Entrez Gene 6833
PubMed articles ABCC8
OMIM - Gene 600509
OMIM - Diseases HHF1 (HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1)
LIH (HYPOGLYCEMIA, LEUCINE-INDUCED)
PNDM3 (DIABETES MELLITUS, PERMANENT NEONATAL, 3)
T2D (TYPE 2 DIABETES MELLITUS)
TNDM2 (DIABETES MELLITUS, TRANSIENT NEONATAL, 2)
HGMD ABCC8
GeneCards ABCC8
GeneTests ABCC8


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000052 11 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 NM_000352.3 NP_000343.2 9


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