ATPase H+ transporting V0 subunit c
Annotations refreshed 9 hours ago.
Diagnostic Grade (Green)
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownEarly onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedSevere microcephaly
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedAtaxia and cerebellar anomalies - narrow panel
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownepilepsy, early-onset, 3, with or without developmental delay
neurodegenerative disease
Seizure
childhood-onset epilepsy syndrome
neoplasm
kidney failure
colorectal carcinoma
breast carcinoma
colorectal cancer
cancer
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
V-type proton ATPase 16 kDa proteolipid subunit c
Proton-conducting pore forming 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 (PubMed:33065002, PubMed:36074901). V-ATPase is responsible for acidifying and maintaining the pH of intracellular compartments, and in some cell types, it is targeted to the plasma membrane, where it promotes acidification of the extracellular environment (By similarity). The V-ATPase complex also acts as an activator for mTORC1 on lysosomal membrane by promoting the guanine nucleotide exchange factor (GEF) of the Ragulator complex, thereby enabling mTORC1 recruitment (PubMed:22053050)
ATP6V0C · P27449
Mean pLDDT
88.5/ 100
Confident
155 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
