DISEASES

Disease-gene associations mined from literature

Literature associating TBC1D32 and ankyloglossia

TBC1D32 [ENSP00000381270]

TBC1 domain family, member 32; Required for high-level Shh responses in the developing neural tube. Together with CDK20, controls the structure of the primary cilium by coordinating assembly of the ciliary membrane and axoneme, allowing GLI2 to be properly activated in response to Shh signaling (By similarity); Armadillo-like helical domain containing

Synonyms:  TBC1D32,  TBC1D32p,  hTBC1D32,  A2A304,  H0YBP0 ...

Linkouts:  STRING  Pharos  UniProt