Aliases for TMEM67 Gene
External Ids for TMEM67 Gene
Previous HGNC Symbols for TMEM67 Gene
Previous GeneCards Identifiers for TMEM67 Gene
The protein encoded by this gene localizes to the primary cilium and to the plasma membrane. The gene functions in centriole migration to the apical membrane and formation of the primary cilium. Multiple transcript variants encoding different isoforms have been found for this gene. Defects in this gene are a cause of Meckel syndrome type 3 (MKS3) and Joubert syndrome type 6 (JBTS6). [provided by RefSeq, Nov 2008]
GeneCards Summary for TMEM67 Gene
TMEM67 is a Protein Coding gene. Diseases associated with TMEM67 include coach syndrome and joubert syndrome 6. GO annotations related to this gene include unfolded protein binding and filamin binding.
UniProtKB/Swiss-Prot for TMEM67 Gene
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).