ATP6AP2 Chromosome X
ATPase H+ transporting accessory protein 2
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What This Gene Does
This gene encodes a protein that is associated with adenosine triphosphatases (ATPases). Proton-translocating ATPases have fundamental roles in energy conservation, secondary active transport, acidification of intracellular compartments, and cellular pH homeostasis. There are three classes of ATPases- F, P, and V. The vacuolar (V-type) ATPases have a transmembrane proton-conducting sector and an extramembrane catalytic sector. The encoded protein has been found associated with the transmembrane sector of the V-type ATPases. [provided by RefSeq, Jul 2008]
Associated Conditions (5)
Syndromic X-linked intellectual disability Hedera type
X-linked parkinsonism-spasticity syndrome
Congenital disorder of glycosylation
type IIr
Inborn genetic diseases
Key Variants
RS142013283
Conflicting classifications of pathogenicity
Syndromic X-linked intellectual disability Hedera type, X-linked parkinsonism-spasticity syndrome, Congenital disorder of glycosylation
Health Risk
RS1555978069
Conflicting classifications of pathogenicity
Syndromic X-linked intellectual disability Hedera type, Inborn genetic diseases, X-linked parkinsonism-spasticity syndrome
Health Risk
RS183052805
Conflicting classifications of pathogenicity
Inborn genetic diseases, Syndromic X-linked intellectual disability Hedera type, Inborn genetic diseases
Health Risk
RS184634552
Conflicting classifications of pathogenicity
Syndromic X-linked intellectual disability Hedera type, Inborn genetic diseases, Syndromic X-linked intellectual disability Hedera type
Health Risk
RS2518964320
Conflicting classifications of pathogenicity
Syndromic X-linked intellectual disability Hedera type, Syndromic X-linked intellectual disability Hedera type
Health Risk
RS369876508
Conflicting classifications of pathogenicity
Syndromic X-linked intellectual disability Hedera type, Syndromic X-linked intellectual disability Hedera type
Health Risk
RS748977074
Conflicting classifications of pathogenicity
Syndromic X-linked intellectual disability Hedera type, Inborn genetic diseases, Syndromic X-linked intellectual disability Hedera type
Health Risk
RS749401561
Conflicting classifications of pathogenicity
Syndromic X-linked intellectual disability Hedera type, Inborn genetic diseases, Syndromic X-linked intellectual disability Hedera type
Health Risk
RS756836341
Conflicting classifications of pathogenicity
Syndromic X-linked intellectual disability Hedera type, Inborn genetic diseases, Syndromic X-linked intellectual disability Hedera type
Health Risk
RS758003959
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS765852654
Conflicting classifications of pathogenicity
Syndromic X-linked intellectual disability Hedera type, Inborn genetic diseases, Syndromic X-linked intellectual disability Hedera type
Health Risk
RS895752312
Conflicting classifications of pathogenicity
Syndromic X-linked intellectual disability Hedera type, Syndromic X-linked intellectual disability Hedera type
Health Risk
All Variants (18)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS142013283 | Health Risk | Conflicting classifications of pathogenicity | Syndromic X-linked intellectual disability Hedera type, X-linked parkinsonism-spasticity syndrome, Congenital disorder of glycosylation |
| RS1555978069 | Health Risk | Conflicting classifications of pathogenicity | Syndromic X-linked intellectual disability Hedera type, Inborn genetic diseases, X-linked parkinsonism-spasticity syndrome |
| RS183052805 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Syndromic X-linked intellectual disability Hedera type, Inborn genetic diseases |
| RS184634552 | Health Risk | Conflicting classifications of pathogenicity | Syndromic X-linked intellectual disability Hedera type, Inborn genetic diseases, Syndromic X-linked intellectual disability Hedera type |
| RS2518964320 | Health Risk | Conflicting classifications of pathogenicity | Syndromic X-linked intellectual disability Hedera type, Syndromic X-linked intellectual disability Hedera type |
| RS369876508 | Health Risk | Conflicting classifications of pathogenicity | Syndromic X-linked intellectual disability Hedera type, Syndromic X-linked intellectual disability Hedera type |
| RS748977074 | Health Risk | Conflicting classifications of pathogenicity | Syndromic X-linked intellectual disability Hedera type, Inborn genetic diseases, Syndromic X-linked intellectual disability Hedera type |
| RS749401561 | Health Risk | Conflicting classifications of pathogenicity | Syndromic X-linked intellectual disability Hedera type, Inborn genetic diseases, Syndromic X-linked intellectual disability Hedera type |
| RS756836341 | Health Risk | Conflicting classifications of pathogenicity | Syndromic X-linked intellectual disability Hedera type, Inborn genetic diseases, Syndromic X-linked intellectual disability Hedera type |
| RS758003959 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS765852654 | Health Risk | Conflicting classifications of pathogenicity | Syndromic X-linked intellectual disability Hedera type, Inborn genetic diseases, Syndromic X-linked intellectual disability Hedera type |
| RS895752312 | Health Risk | Conflicting classifications of pathogenicity | Syndromic X-linked intellectual disability Hedera type, Syndromic X-linked intellectual disability Hedera type |
| RS910550834 | Health Risk | Conflicting classifications of pathogenicity | Syndromic X-linked intellectual disability Hedera type, Syndromic X-linked intellectual disability Hedera type |
| RS2146543631 | Health Risk | Likely pathogenic | Syndromic X-linked intellectual disability Hedera type, Syndromic X-linked intellectual disability Hedera type |
| RS121918521 | Health Risk | Pathogenic | Syndromic X-linked intellectual disability Hedera type, Syndromic X-linked intellectual disability Hedera type |
| RS1926621737 | Health Risk | Pathogenic | Congenital disorder of glycosylation, type IIr, Congenital disorder of glycosylation |
| RS1926795050 | Health Risk | Pathogenic | Syndromic X-linked intellectual disability Hedera type, Syndromic X-linked intellectual disability Hedera type |
| RS397518480 | Health Risk | Pathogenic | X-linked parkinsonism-spasticity syndrome, X-linked parkinsonism-spasticity syndrome |