The ABCC8 gene homepage

General information
Gene symbol ABCC8
Gene name ATP-binding cassette, sub-family C (CFTR/MRP), member 8
Chromosome 11
Chromosomal band p15.1
Imprinted Unknown
Genomic reference NG_008867.1
Transcript reference NM_000352.3
Exon/intron information NM_000352.3 exon/intron table
Associated with diseases HHF1, LIH, NIDDM, PNDM3, TNDM, TNDM2
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 547
Unique public DNA variants reported 488
Individuals with public variants 326
Hidden variants 64
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created May 03, 2013
Date last updated November 27, 2023
Version ABCC8:231127

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_000352.3.
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
Homepage URL
Entrez Gene 6833
PubMed articles ABCC8
OMIM - Gene 600509
OMIM - Diseases HHF1 (hypoglycemia, hyperinsulinemic, familial, type 1(HHF-1))
LIH (Hypoglycemia of infancy, leucine-sensitive)
NIDDM (diabetes mellitus, type II (NIDDM))
PNDM3 (Diabetes mellitus, permanent neonatal 3, with or without neurologic features)
TNDM2 (diabetes mellitus, transient neonatal, type 2 (TNMD-2))
GeneCards ABCC8
GeneTests ABCC8
Orphanet ABCC8

Active transcripts




NCBI ID     

NCBI Protein ID     

00001876 11 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 NM_000352.3 NP_000343.2 547

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The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized use, copying, storage, or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2013-2023. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

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