Atpase, Cu(2+)-Transporting, Alpha Polypeptide

Alternative Names

  • ATP7A
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OMIM Number

300011

NCBI Gene ID

538

Uniprot ID

Q04656

Length

139,703 bases

No. of Exons

23

No. of isoforms

6

Protein Name

Copper-transporting ATPase 1

Molecular Mass

163373 Da

Amino Acid Count

1500

Genomic Location

chrX:77,910,693-78,050,395

Gene Map Locus
Xq21.1

Description

This gene encodes a transmembrane protein that functions in copper transport across membranes. This protein is localized to the trans Golgi network, where it is predicted to supply copper to copper-dependent enzymes in the secretory pathway. It relocalizes to the plasma membrane under conditions of elevated extracellular copper, and functions in the efflux of copper from cells. Mutations in this gene are associated with Menkes disease, X-linked distal spinal muscular atrophy, and occipital horn syndrome. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000052.7:c.1138G>AQatarNC_000023.11:g.77989760G>ABenign, Likely BenignLikely BenignNG_013224.2:g.84064G>A; NM_000052.7:c.1138G>A; NP_000043.4:p.Val380Met149523862807776
NM_000052.7:c.1955G>AQatarNC_000023.11:g.78011457G>ALikely Pathogenic, Uncertain SignificanceLikely BenignNG_013224.2:g.105761G>A; NM_000052.7:c.1955G>A; NP_000043.4:p.Arg652Gln143214563284222
NM_000052.7:c.4006A>GQatarNC_000023.11:g.78043317A>GBenign, Likely Benign, Uncertain SignificanceLikely BenignNG_013224.2:g.137621A>G; NM_000052.7:c.4006A>G; NP_000043.4:p.Asn1336Asp146651049284224
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