The 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_000052.5
Exon/intron information NM_000052.5 exon/intron table
Associated with diseases ID, Menkes, OHS, SMAX3
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Zeynep Tümer
Total number of public variants reported 612
Unique public DNA variants reported 461
Individuals with public variants 545
Hidden variants 18
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 November 19, 2021
Version ATP7A:211119

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_000052.5.
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 https://www.LOVD.nl/ATP7A
HGNC 869
Entrez Gene 538
PubMed articles ATP7A
OMIM - Gene 300011
OMIM - Diseases Menkes (Menkes disease)
OHS (syndrome, occipital horn (OHS))
SMAX3 (atrophy, muscular, spinal, distal, X-linked, type 3 (SMAX3))
HGMD ATP7A
GeneCards ATP7A
GeneTests ATP7A
Orphanet ATP7A


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00025270 X ATPase, Cu++ transporting, alpha polypeptide NM_000052.5 NP_000043.3 612


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