Disease-gene associations mined from literature

Literature associating TMEM107 and Meckel syndrome 5

TMEM107 [ENSP00000314116]

Transmembrane protein 107; Plays a role in cilia formation and embryonic patterning. Requires for normal Sonic hedgehog (Shh) signaling in the neural tube and acts in combination with GLI2 and GLI3 to pattern ventral and intermediate neuronal cell types (By similarity). During ciliogenesis regulates the ciliary transition zone localization of some MKS complex proteins.

Synonyms:  TMEM107,  TMEM107p,  hTMEM107,  B2RDT5,  B3KNL7 ...

Linkouts:  STRING  Pharos  UniProt