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
Notes MSeqDR-LSDB
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))
HGMD SLC25A4
GeneCards SLC25A4
GeneTests SLC25A4


Active transcripts


ID     
Chr     
Name     
NCBI ID     
NCBI Protein ID     
DescendingVariants     
00000302 4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4 NM_001151.3 NP_001142.2 66


Copyright & disclaimer
Sources: GeneDX http://www.genedx.com ; NuclearMitome http://www.transgenomic.com ; MitoPhenome http://mitophenome.org ; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium

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