VMA12 Chromosome 17
Vacuolar ATPase assembly factor VMA12
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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) in some human cells. The encoded protein shares some homology with the yeast protein Vma12. Defects in this gene are a cause of congenital disorder of glycosylation, type IIp. [provided by RefSeq, Mar 2016]
Gene Info
Gene Group
MicroRNA protein coding host genes
Locus Type
gene with protein product
Location
17q11.2
Ensembl
ENSG00000244045
Associated Conditions (3)
TMEM199-related disorder
Congenital disorders of glycosylation type II
TMEM199-CDG
Key Variants
RS781939580
Conflicting classifications of pathogenicity
TMEM199-related disorder, TMEM199-related disorder
Health Risk
RS139239352
Likely pathogenic
Health Risk
RS369488804
Likely pathogenic
Congenital disorders of glycosylation type II, TMEM199-CDG, Congenital disorders of glycosylation type II
Health Risk
RS782563182
Pathogenic
Health Risk
RS869025586
Pathogenic
TMEM199-CDG, TMEM199-CDG
Health Risk
RS869025587
Pathogenic
TMEM199-CDG, TMEM199-CDG
Health Risk
RS782531869
Pathogenic/Likely pathogenic
TMEM199-CDG, Congenital disorders of glycosylation type II, TMEM199-related disorder
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS781939580 | Health Risk | Conflicting classifications of pathogenicity | TMEM199-related disorder, TMEM199-related disorder |
| RS139239352 | Health Risk | Likely pathogenic | — |
| RS369488804 | Health Risk | Likely pathogenic | Congenital disorders of glycosylation type II, TMEM199-CDG, Congenital disorders of glycosylation type II |
| RS782563182 | Health Risk | Pathogenic | — |
| RS869025586 | Health Risk | Pathogenic | TMEM199-CDG, TMEM199-CDG |
| RS869025587 | Health Risk | Pathogenic | TMEM199-CDG, TMEM199-CDG |
| RS782531869 | Health Risk | Pathogenic/Likely pathogenic | TMEM199-CDG, Congenital disorders of glycosylation type II, TMEM199-related disorder |