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- Table of Contents
Facts about Meckel syndrome type 1 protein.
Required for ciliary structure and function, including a role in regulating length and proper amount through regulating centrosome duplication. Required for mobile branching morphology.
Human | |
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Gene Name: | MKS1 |
Uniprot: | Q9NXB0 |
Entrez: | 54903 |
Belongs to: |
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No superfamily |
BBS13FLJ20345; FABB proteome-like protein; Meckel syndrome type 1 protein; Meckel syndrome, type 1; MES; MKS; POC12 centriolar protein homolog; POC12
Mass (kDA):
64.528 kDA
Human | |
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Location: | 17q22 |
Sequence: | 17; NC_000017.11 (58205436..58219605, complement) |
Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Localizes at the transition zone, a region between the basal body and the ciliary axoneme.
PMID: 16415886 by Kyttaelae M., et al. MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome.
PMID: 17185389 by Dawe H.R., et al. The Meckel-Gruber syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation.