1 sources retrieved · Most recent: April 2026 · Index updated 16 days ago
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52PubMed Papers
21Diseases
0Drugs
7Pathogenic Variants
CLINICALOMIM Disease Gene
DATA QUALITY✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
endoplasmic reticulumCOPI-coated vesicle membraneintracellular iron ion homeostasislysosomal lumen acidificationTMEM199-CDGcongenital disorder of glycosylation type IIcongenital disorder of glycosylationgenetic disorder
Based on limited published evidence, VMA12 is an accessory component of the vacuolar V-ATPase proton pump critical for intracellular iron homeostasis. The protein is required for endolysosomal acidification and lysosomal protein degradation 1. In aerobic conditions, VMA12 maintains iron levels necessary for PHD enzyme activity, enabling HIF1A hydroxylation and proteasomal degradation 1. VMA12 may also contribute to Golgi homeostasis and binds 20(S)-hydroxycholesterol. Mutations cause congenital disorder of glycosylation 2P.
1
VMA12 disruption impairs endolysosomal acidification, depletes intracellular iron, and blocks PHD-mediated HIF1α hydroxylation in aerobic conditions
PMID: 28296633⚠Limited data available — This gene has 1 indexed publication. Summary and analysis may be incomplete.
congenital disorder of glycosylation type IIOpen Targets
congenital disorder of glycosylationOpen Targets
genetic disorderOpen Targets
temporal arteritisOpen Targets
age-related macular degenerationOpen Targets
wet macular degenerationOpen Targets
atrophic macular degenerationOpen Targets
hepatocellular carcinomaOpen Targets
liver diseaseOpen Targets
Hepatic steatosisOpen Targets
HypercholesterolemiaOpen Targets
breast cancerOpen Targets
fatty liver diseaseOpen Targets
Lentivirus InfectionsOpen Targets
Congenital disorder of glycosylation 2PUniProt
NM_152464.3(VMA12):c.92G>C (p.Arg31Pro)Pathogenic
Congenital disorders of glycosylation type II|TMEM199-CDG|not provided|TMEM199-related disorder
★★☆☆2023→ Residue 31
NM_152464.3(VMA12):c.206_209del (p.Glu69fs)Pathogenic
TMEM199-CDG
★☆☆☆2025→ Residue 69
NM_152464.3(VMA12):c.13_14del (p.Leu5fs)Pathogenic
not provided
★☆☆☆2022→ Residue 5
NM_152464.3(VMA12):c.211+1G>ALikely pathogenic
not provided
★☆☆☆2022
NM_152464.3(VMA12):c.20C>A (p.Ala7Glu)Likely pathogenic
Congenital disorders of glycosylation type II|TMEM199-CDG|not provided
★☆☆☆2020→ Residue 7
NM_152464.3(VMA12):c.40G>C (p.Ala14Pro)Pathogenic
TMEM199-CDG
☆☆☆☆2016→ Residue 14
NM_152464.3(VMA12):c.376-1G>APathogenic
TMEM199-CDG
☆☆☆☆2016