VMA22 Chromosome 2
Vacuolar ATPase assembly factor VMA22
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What This Gene Does
The protein encoded by this gene has been observed to localize to the endoplasmic reticulum (ER)-Golgi intermediate compartment (ERGIC) and coat protein complex I (COPI) vesicles in some human cells. The encoded protein shares some homology with the yeast V-ATPase assembly factor Vma22p, and the orthologous protein in mouse promotes cell proliferation and suppresses cell death. Defects in this gene are a cause of congenital disorder of glycosylation, type IIo in humans. [provided by RefSeq, Mar 2016]
Associated Conditions (3)
Uterine corpus endometrial carcinoma
CCDC115-CDG
Congenital disorders of glycosylation type II
Key Variants
RS147226112
Conflicting classifications of pathogenicity
Uterine corpus endometrial carcinoma, Uterine corpus endometrial carcinoma
Health Risk
RS752919660
Conflicting classifications of pathogenicity
Health Risk
RS751325113
Pathogenic
CCDC115-CDG, Congenital disorders of glycosylation type II, CCDC115-CDG
Health Risk
RS756164478
Pathogenic
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS147226112 | Health Risk | Conflicting classifications of pathogenicity | Uterine corpus endometrial carcinoma, Uterine corpus endometrial carcinoma |
| RS752919660 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS751325113 | Health Risk | Pathogenic | CCDC115-CDG, Congenital disorders of glycosylation type II, CCDC115-CDG |
| RS756164478 | Health Risk | Pathogenic | — |