Recombinant Human Meckelin (TMEM67), Truncated

Uniprot Id

Q5HYA8

Target Species

Human

Target Name

TMEM67

Target Full Name

Meckelin

Target Function

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. 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).

Target Involvement

Meckel syndrome 3 (MKS3); Joubert syndrome 6 (JBTS6); Bardet-Biedl syndrome (BBS); COACH syndrome (COACHS); Nephronophthisis 11 (NPHP11)

Target Subcellular Location

Cell membrane; Multi-pass membrane protein. Endoplasmic reticulum membrane; Multi-pass membrane protein. Cell projection, cilium. Cytoplasm, cytoskeleton, cilium basal body.

Target Tissue Specificity

Widely expressed in adult and fetal tissues. Expressed at higher level in spinal cord.

Target Synonyms

TMEM67; MKS3; Meckelin; Meckel syndrome type 3 protein; Transmembrane protein 67

Target Background

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).