DISEASES

Disease-gene associations mined from literature

Literature associating TMEM67 and Bardet-Biedl syndrome 15

TMEM67 [ENSP00000389998]

Meckel syndrome type 3 protein; Required for ciliary structure and function. Part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition (By similarity). Involved in centrosome migration to the apical cell surface during early ciliogenesis. Involved in the regulation of cilia length and appropriate number through the control of centrosome duplication. Required for cell branching morphology. Essential for endoplasmic reticulum-associated degradation (ERAD) of surfactant protein C (SFTPC).

Synonyms:  TMEM67,  TMEM67p,  hTMEM67,  C9JHI2,  C9JRQ8 ...

Linkouts:  STRING  Pharos  UniProt  OMIM