Disease-gene associations mined from literature

Literature associating B9D1 and Meckel syndrome 5

B9D1 [ENSP00000261499]

B9 domain-containing protein 1; Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Required for ciliogenesis and sonic hedgehog/SHH signaling (By similarity); Belongs to the B9D family.

Synonyms:  B9D1,  B9D1p,  hB9D1,  A8MTX4,  A8MYG7 ...

Linkouts:  STRING  Pharos  UniProt  OMIM