ATP7A Chromosome X
ATPase copper transporting alpha
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What This Gene Does
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. Alternatively-spliced transcript variants have been observed. [provided by RefSeq, Aug 2013]
Gene Info
Gene Group
ATPase copper transporting
Locus Type
gene with protein product
Location
Xq21.1
Ensembl
ENSG00000165240
Associated Conditions (21)
Menkes kinky-hair syndrome
X-linked distal spinal muscular atrophy type 3
Cutis laxa
X-linked
Inborn genetic diseases
Ehlers-Danlos syndrome
ATP7A-related disorder
Intellectual disability
See cases
History of neurodevelopmental disorder
Menkes disease
mild
copper-replacement responsive
Charcot-Marie-Tooth disease
Nonpapillary renal cell carcinoma
Thyroid cancer
nonmedullary
1
Neuronopathy
distal hereditary motor
+1 more conditions
Key Variants
RS1039952708
Conflicting classifications of pathogenicity
Menkes kinky-hair syndrome, X-linked distal spinal muscular atrophy type 3, Cutis laxa
Health Risk
RS1050354930
Conflicting classifications of pathogenicity
Inborn genetic diseases, Menkes kinky-hair syndrome, X-linked distal spinal muscular atrophy type 3
Health Risk
RS1057518370
Conflicting classifications of pathogenicity
Menkes kinky-hair syndrome, Cutis laxa, X-linked
Health Risk
RS1057520234
Conflicting classifications of pathogenicity
Cutis laxa, X-linked, X-linked distal spinal muscular atrophy type 3
Health Risk
RS1199992144
Conflicting classifications of pathogenicity
Menkes kinky-hair syndrome, Cutis laxa, X-linked
Health Risk
RS1227094533
Conflicting classifications of pathogenicity
Menkes kinky-hair syndrome, Cutis laxa, X-linked
Health Risk
RS1250703588
Conflicting classifications of pathogenicity
Menkes kinky-hair syndrome, Cutis laxa, X-linked
Health Risk
RS1264242478
Conflicting classifications of pathogenicity
Menkes kinky-hair syndrome, Cutis laxa, X-linked
Health Risk
RS1287511385
Conflicting classifications of pathogenicity
Menkes kinky-hair syndrome, X-linked distal spinal muscular atrophy type 3, Cutis laxa
Health Risk
RS1313711010
Conflicting classifications of pathogenicity
X-linked distal spinal muscular atrophy type 3, Cutis laxa, X-linked
Health Risk
RS1325784914
Conflicting classifications of pathogenicity
Menkes kinky-hair syndrome, X-linked distal spinal muscular atrophy type 3, Cutis laxa
Health Risk
RS1331470313
Conflicting classifications of pathogenicity
Cutis laxa, X-linked, Menkes kinky-hair syndrome
Health Risk
All Variants (385)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2522295388 | Health Risk | Pathogenic | Menkes kinky-hair syndrome, X-linked distal spinal muscular atrophy type 3, Cutis laxa |
| RS2522322667 | Health Risk | Pathogenic | Cutis laxa, X-linked, Cutis laxa |
| RS2522348387 | Health Risk | Pathogenic | Cutis laxa, X-linked, Menkes kinky-hair syndrome |
| RS2522349949 | Health Risk | Pathogenic | — |
| RS2522354743 | Health Risk | Pathogenic | Menkes kinky-hair syndrome, Menkes kinky-hair syndrome |
| RS2522355229 | Health Risk | Pathogenic | See cases, See cases |
| RS2522358948 | Health Risk | Pathogenic | Cutis laxa, X-linked, Menkes kinky-hair syndrome |
| RS2522371088 | Health Risk | Pathogenic | — |
| RS2522372927 | Health Risk | Pathogenic | Menkes kinky-hair syndrome, Cutis laxa, X-linked |
| RS2522392716 | Health Risk | Pathogenic | Menkes kinky-hair syndrome, X-linked distal spinal muscular atrophy type 3, Cutis laxa |
| RS2522397551 | Health Risk | Pathogenic | Menkes kinky-hair syndrome, Menkes kinky-hair syndrome |
| RS2522414783 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2522419362 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2522425477 | Health Risk | Pathogenic | X-linked distal spinal muscular atrophy type 3, Menkes kinky-hair syndrome, Cutis laxa |
| RS267606672 | Health Risk | Pathogenic | X-linked distal spinal muscular atrophy type 3, Charcot-Marie-Tooth disease, Cutis laxa |
| RS398123133 | Health Risk | Pathogenic | — |
| RS398123135 | Health Risk | Pathogenic | X-linked distal spinal muscular atrophy type 3, X-linked distal spinal muscular atrophy type 3 |
| RS67273048 | Health Risk | Pathogenic | Menkes kinky-hair syndrome, Menkes kinky-hair syndrome |
| RS72554635 | Health Risk | Pathogenic | X-linked distal spinal muscular atrophy type 3, Menkes kinky-hair syndrome, Cutis laxa |
| RS72554640 | Health Risk | Pathogenic | Menkes kinky-hair syndrome, Cutis laxa, X-linked |
| RS72554644 | Health Risk | Pathogenic | Menkes kinky-hair syndrome, Cutis laxa, X-linked |
| RS72554645 | Health Risk | Pathogenic | Menkes kinky-hair syndrome, X-linked distal spinal muscular atrophy type 3, Cutis laxa |
| RS72554649 | Health Risk | Pathogenic | Menkes kinky-hair syndrome, X-linked distal spinal muscular atrophy type 3, Cutis laxa |
| RS72554650 | Health Risk | Pathogenic | Menkes kinky-hair syndrome, Cutis laxa, X-linked |
| RS72554652 | Health Risk | Pathogenic | Menkes kinky-hair syndrome, Menkes kinky-hair syndrome |
| RS794729231 | Health Risk | Pathogenic | Menkes kinky-hair syndrome, Menkes kinky-hair syndrome, Menkes kinky-hair syndrome |
| RS797045325 | Health Risk | Pathogenic | Menkes kinky-hair syndrome, Menkes kinky-hair syndrome |
| RS797045327 | Health Risk | Pathogenic | Menkes kinky-hair syndrome, Menkes kinky-hair syndrome |
| RS797045329 | Health Risk | Pathogenic | Menkes kinky-hair syndrome, Menkes kinky-hair syndrome |
| RS797045330 | Health Risk | Pathogenic | Menkes kinky-hair syndrome, Menkes kinky-hair syndrome |
| RS797045332 | Health Risk | Pathogenic | Menkes kinky-hair syndrome, Cutis laxa, X-linked |
| RS797045333 | Health Risk | Pathogenic | Menkes kinky-hair syndrome, Menkes kinky-hair syndrome |
| RS797045336 | Health Risk | Pathogenic | Menkes kinky-hair syndrome, Menkes kinky-hair syndrome |
| RS797045337 | Health Risk | Pathogenic | Menkes kinky-hair syndrome, Menkes kinky-hair syndrome |
| RS797045338 | Health Risk | Pathogenic | Menkes kinky-hair syndrome, Cutis laxa, X-linked |
| RS797045339 | Health Risk | Pathogenic | Menkes kinky-hair syndrome, Cutis laxa, X-linked |
| RS797045340 | Health Risk | Pathogenic | Menkes kinky-hair syndrome, Cutis laxa, X-linked |
| RS797045341 | Health Risk | Pathogenic | Menkes kinky-hair syndrome, Menkes kinky-hair syndrome |
| RS797045342 | Health Risk | Pathogenic | Menkes kinky-hair syndrome, Menkes kinky-hair syndrome |
| RS797045343 | Health Risk | Pathogenic | Menkes kinky-hair syndrome, Menkes kinky-hair syndrome |
| RS797045344 | Health Risk | Pathogenic | Menkes kinky-hair syndrome, Menkes kinky-hair syndrome, Cutis laxa |
| RS797045346 | Health Risk | Pathogenic | Menkes kinky-hair syndrome, Menkes kinky-hair syndrome |
| RS797045349 | Health Risk | Pathogenic | Menkes kinky-hair syndrome, Menkes kinky-hair syndrome |
| RS797045351 | Health Risk | Pathogenic | Menkes kinky-hair syndrome, Cutis laxa, X-linked |
| RS797045352 | Health Risk | Pathogenic | Menkes kinky-hair syndrome, Menkes kinky-hair syndrome |
| RS797045353 | Health Risk | Pathogenic | Menkes kinky-hair syndrome, Menkes kinky-hair syndrome |
| RS797045354 | Health Risk | Pathogenic | Menkes kinky-hair syndrome, Menkes kinky-hair syndrome |
| RS797045355 | Health Risk | Pathogenic | Menkes kinky-hair syndrome, Menkes kinky-hair syndrome |
| RS797045356 | Health Risk | Pathogenic | Menkes kinky-hair syndrome, Menkes kinky-hair syndrome |
| RS797045358 | Health Risk | Pathogenic | Menkes kinky-hair syndrome, Menkes kinky-hair syndrome |