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- Table of Contents
Facts about Meckelin.
Involved in centrosome migration into the apical cell surface through early ciliogenesis. Involved in the regulation of cilia length and appropriate amount through the control of centrosome duplication.
Human | |
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Gene Name: | TMEM67 |
Uniprot: | Q5HYA8 |
Entrez: | 91147 |
Belongs to: |
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No superfamily |
meckel syndrome type 3 protein; Meckelin; MGC26979; TNEM67; transmembrane protein 67
Mass (kDA):
111.745 kDA
Human | |
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Location: | 8q22.1 |
Sequence: | 8; NC_000008.11 (93754844..93832653) |
Widely expressed in adult and fetal tissues. Expressed at higher level in spinal cord.
Cell membrane; Multi-pass membrane protein. Endoplasmic reticulum membrane; Multi-pass membrane protein. Cell projection, cilium. Cytoplasm, cytoskeleton, cilium basal body. Localizes at the transition zone, a region between the basal body and the ciliary axoneme (PubMed:22121117).
PMID: 17185389 by Dawe H.R., et al. The Meckel-Gruber syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation.
PMID: 19515853 by Tammachote R., et al. Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3.