ATP5A1 gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol ATP5A1
Gene name ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle
Chromosome 18
Chromosomal band q21
Imprinted Unknown
Genomic reference NC_000018.9
Transcript reference NM_001001937.1, NM_004046.4, NM_004046.5
Associated with diseases 615228, 616045
Citation reference(s) -
Curators (0) -
Total number of public variants reported 3
Unique public DNA variants reported 2
Individuals with public variants 0
Hidden variants 0
Download all this gene's data Download all data
Notes MSeqDR-LSDB
Date created November 15, 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 823
Entrez Gene 498
PubMed articles ATP5A1
OMIM - Gene 164360
OMIM - Diseases 615228 (Mitochondrial complex (ATP synthase) deficiency, nuclear type 4, 615228 (3))
616045 (?Combined oxidative phosphorylation deficiency 22, 616045 (3))
HGMD ATP5A1
GeneCards ATP5A1
GeneTests ATP5A1


Active transcripts


ID     
Chr     
Name     
NCBI ID     
NCBI Protein ID     
DescendingVariants     
00001571 18 transcript variant 1 NM_001001937.1 NP_001001937.1 3
00001572 18 transcript variant 2 NM_004046.4 NP_004037.1 3
00003340 18 transcript variant 2 NM_004046.5 NP_004037.1 3


Copyright & disclaimer
; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium

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