ATP7A gene homepage

General information
Gene symbol ATP7A
Gene name ATPase, Cu++ transporting, alpha polypeptide
Chromosome X
Chromosomal band q21.1
Imprinted Unknown
Genomic reference NG_013224.2
Transcript reference NM_000052.4, NM_000052.5
Associated with diseases ID, Menkes, atrophy, muscular, spinal, distal, X-linked, type 3, Occipital horn syndrome
Citation reference(s) -
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 178
Unique public DNA variants reported 140
Individuals with public variants 36
Hidden variants 11
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 April 05, 2011
Date last updated September 15, 2020
Version ATP7A:200915

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
Homepage URL
External URL Orphanet
HGNC 869
Entrez Gene 538
PubMed articles ATP7A
OMIM - Gene 300011
OMIM - Diseases Menkes (Menkes disease)
atrophy, muscular, spinal, distal, X-linked, type 3
Occipital horn syndrome
GeneCards ATP7A
GeneTests ATP7A

Active transcripts




NCBI ID     

NCBI Protein ID     

00025270 X ATPase, Cu++ transporting, alpha polypeptide NM_000052.5 NP_000043.3 174
00000124 X ATPase, Cu++ transporting, alpha polypeptide NM_000052.4 NP_000043.3 29

Copyright & disclaimer
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