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- Table of Contents
Facts about Ellis-van Creveld syndrome protein.
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Human | |
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Gene Name: | EVC |
Uniprot: | P57679 |
Entrez: | 2121 |
Belongs to: |
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No superfamily |
Ellis van Creveld syndrome; ellis-van Creveld syndrome protein
Mass (kDA):
111.99 kDA
Human | |
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Location: | 4p16.2 |
Sequence: | 4; NC_000004.12 (5711199..5829043) |
Found in the developing vertebral bodies, ribs, upper and lower limbs, heart, kidney, lung.
Cell membrane; Single-pass membrane protein. Cytoplasm, cytoskeleton, cilium basal body. Cell projection, cilium. Cell projection, cilium membrane. EVC2 is required for the localization of EVC at the base of primary cilia. The EvC complex localizes at the base of cilia in the EvC zone of primary cilia in a EFCAB7-dependent manner.
PMID: 10700184 by Ruiz-Perez V.L., et al. Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis.
PMID: 18947413 by Ulucan H., et al. Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene.