T cell immune regulator 1, ATPase H+ transporting V0 subunit a3
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Diagnostic Grade (Green)
COVID-19 research
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalHydrocephalus
BIALLELIC, autosomal or pseudoautosomalOsteopetrosis
BIALLELIC, autosomal or pseudoautosomalSkeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalCytopenia - NOT Fanconi anaemia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedPrimary immunodeficiency or monogenic inflammatory bowel disease
BIALLELIC, autosomal or pseudoautosomalAutosomal recessive malignant osteopetrosis
autosomal recessive osteopetrosis 1
osteopetrosis
dysosteosclerosis
autosomal recessive osteopetrosis
hereditary disease
Intermediate osteopetrosis
severe congenital neutropenia
autosomal dominant severe congenital neutropenia
neutropenia, severe congenital, 1, autosomal dominant
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
V-type proton ATPase 116 kDa subunit a 3
Subunit of the V0 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates protons (By similarity). V-ATPase is responsible for acidifying and maintaining the pH of intracellular compartments and in some cell types, is targeted to the plasma membrane, where it is responsible for acidifying the extracellular environment (By similarity). Seems to be directly involved in T-cell activation (PubMed:10329006)
TCIRG1 · Q13488
Mean pLDDT
83.0/ 100
Confident
830 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
