Ellis-van Creveld syndrome protein; DWF-1 (EVC)
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Function
- acts as a positive mediator of Hedgehog signaling
- role in normal endochondral growth & skeletal development (putative)
- interacts with EVC2 (putative)
Compartment
- cell membrane, single-pass membrane protein
- cytoplasm, cytoskeleton, cilium basal body
- cell projection, cilium mmebrane
- EVC2 is required for the localization of EVC at the base of primary cilia
Expression
- found in the developing vertebral bodies, ribs, upper & lower limbs, heart, kidney, lung
Pathology
- defects associated with
More general terms
References
- ↑ Ruiz-Perez VL et al Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. Nature Genetics 24:283-6, 2000 PMID: https://www.ncbi.nlm.nih.gov/pubmed/10700184
- ↑ UniProt http://www.uniprot.org/uniprot/P57679.html
- ↑ GeneReviews http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/EVC
Database
- Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=2121
- Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:2121
- OMIM: https://mirror.omim.org/entry/193530
- OMIM: https://mirror.omim.org/entry/225500
- OMIM: https://mirror.omim.org/entry/604831
- UniProt: http://www.uniprot.org/uniprot/P57679.html