SLC25A4 gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol SLC25A4
Gene name solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
Chromosome 4
Chromosomal band q35
Imprinted Unknown
Genomic reference NC_000004.11
Transcript reference NM_001151.3
Associated with diseases 609283, 617184, MTDPS12
Citation reference(s) -
Curators (0) -
Total number of public variants reported 66
Unique public DNA variants reported 60
Individuals with public variants 0
Hidden variants 0
Download all this gene's data Download all data
Date created November 07, 2013

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 10990
Entrez Gene 291
PubMed articles SLC25A4
OMIM - Gene 103220
OMIM - Diseases 609283 (Progressive external ophthalmoplegia with mitochondrial DNA deletions 3, 609283 (3))
617184 (Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, 617184 (3))
MTDPS12 (Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type), 615418 (3))
GeneCards SLC25A4
GeneTests SLC25A4

Active transcripts




NCBI ID     

NCBI Protein ID     

00000302 4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4 NM_001151.3 NP_001142.2 66

Copyright & disclaimer
Sources: GeneDX ; NuclearMitome ; MitoPhenome ; MitoCarta

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium