1 sources retrieved · Most recent: April 2026 · Index updated 16 days ago
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40PubMed Papers
21Diseases
0Drugs
6Pathogenic Variants
CLINICALOMIM Disease Gene
DATA QUALITY✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
endoplasmic reticulum-Golgi intermediate compartmentmembraneCOPI-coated vesiclevacuolar proton-transporting V-type ATPase complexcongenital disorder of glycosylation type IICCDC115-CDGgenetic disorderneutropenia, severe congenital, 8, autosomal dominant
Based on limited published evidence, VMA22 is an accessory component of the vacuolar proton-transporting V-ATPase complex essential for intracellular iron homeostasis. VMA22 enables endolysosomal acidification and lysosomal protein degradation 1. In aerobic conditions, VMA22 maintains iron levels necessary for Fe(2+) prolyl hydroxylase (PHD) enzyme activity, enabling HIF1A hydroxylation and proteasomal degradation 1. VMA22 may additionally participate in Golgi homeostasis. Mutations cause congenital disorder of glycosylation 2O, suggesting broader roles in protein processing and cellular homeostasis.
1
VMA22 disruption impairs iron homeostasis and PHD-mediated HIF1α hydroxylation; required for endo-lysosomal acidification and proper iron metabolism regulation
PMID: 28296633⚠Limited data available — This gene has 1 indexed publication. Summary and analysis may be incomplete.
congenital disorder of glycosylation type IIOpen Targets
genetic disorderOpen Targets
neutropenia, severe congenital, 8, autosomal dominantOpen Targets
rheumatoid arthritisOpen Targets
tooth diseaseOpen Targets
pachyonychia congenitaOpen Targets
neuroblastomaOpen Targets
viral diseaseOpen Targets
prostate cancerOpen Targets
chronic kidney diseaseOpen Targets
liver diseaseOpen Targets
pulmonary fibrosisOpen Targets
cerebellar ataxiaOpen Targets
prostate adenocarcinomaOpen Targets
Congenital disorder of glycosylation 2OUniProt
NM_032357.4(VMA22):c.92T>C (p.Leu31Ser)Pathogenic
CCDC115-CDG|Congenital disorders of glycosylation type II|not provided
★★☆☆2024→ Residue 31
NM_032357.4(VMA22):c.298+1G>ALikely pathogenic
not provided
★☆☆☆2026
NM_032357.4(VMA22):c.227del (p.Glu76fs)Pathogenic
CCDC115-CDG
★☆☆☆2025→ Residue 76
NM_032357.4(VMA22):c.243del (p.Phe81fs)Pathogenic
not provided
★☆☆☆2022→ Residue 81
NM_032357.4(VMA22):c.19C>T (p.Arg7Ter)Pathogenic
CCDC115-CDG
☆☆☆☆2025→ Residue 7
NM_032357.4(CCDC115):c.31G>T (p.Asp11Tyr)Pathogenic
CCDC115-CDG|Congenital disorders of glycosylation type II
☆☆☆☆2019→ Residue 11