DISEASES

Disease-gene associations mined from literature

Literature associating ATP6V1C2 and autosomal recessive nonsyndromic deafness 47

ATP6V1C2 [ENSP00000272238]

ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2; Subunit of the peripheral V1 complex of vacuolar ATPase. Subunit C is necessary for the assembly of the catalytic sector of the enzyme and is likely to have a specific function in its catalytic activity. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells; V-type ATPases

Synonyms:  ATP6V1C2,  Q8NEY4,  Q8NEY4p,  hQ8NEY4,  245973 ...

Linkouts:  STRING  Pharos  UniProt