|Other Names||Meckelin, Meckel syndrome type 3 protein, Transmembrane protein 67, TMEM67, MKS3|
|Format||Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C.|
|Precautions||This product is for research use only. Not for use in diagnostic or therapeutic procedures.|
|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 (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).|
|Cellular Location||Cell membrane; Multi-pass membrane protein. Endoplasmic reticulum membrane; Multi-pass membrane protein. Cell projection, cilium Cytoplasm, cytoskeleton, cilium basal body. Note=Localizes at the transition zone, a region between the basal body and the ciliary axoneme (PubMed:22121117).|
|Tissue Location||Widely expressed in adult and fetal tissues. Expressed at higher level in spinal cord.|
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Provided below are standard protocols that you may find useful for product applications.
TMEM67 localizes to the primary cilium and to the plasma membrane.
Doherty, D., et al. J. Med. Genet. 47(1):8-21(2010)Wang, M., et al. J. Biol. Chem. 284(48):33377-33383(2009)Otto, E.A., et al. J. Med. Genet. 46(10):663-670(2009)
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