DISEASES

Disease-gene associations mined from literature

Literature associating TMC1 and Kabuki syndrome

TMC1 [ENSP00000297784]

Transmembrane cochlear-expressed protein 1; Probable ion channel required for the normal function of cochlear hair cells; Belongs to the TMC family.

Synonyms:  TMC1,  TMC1p,  hTMC1,  Q8TDI8,  Q8TDI8p ...

Linkouts:  STRING  Pharos  UniProt  OMIM