Family

Ellis-van Creveld protein (IPR026582)

Short name: Evc

Family relationships

Description

Ellis-van Creveld protein (EVC) is a protein mutated in the human chondroectodermal dysplasia Ellis-van Creveld syndrome. EVC acts as a positive mediator of Hedgehog signaling. It is indispensable for normal endochondral growth and skeletal development [PMID: 17660199].

Defects in EVC are a cause of Ellis-van Creveld syndrome (EVC, also known as chondroectodermal dysplasia) and acrofacial dysostosis Weyers type (WAD, also known as Curry-Hall syndrome) in human [PMID: 10700184]. EVC is an autosomal recessive disorder characterised by the clinical tetrad of chondrodystrophy, polydactyly, ectodermal dysplasia and cardiac anomalies. WAD is an autosomal dominant disorder characterised by dysplastic nails, postaxial polydactyly, acrofacial dysostosis, short limbs and short stature. The phenotype is milder than Ellis-van Creveld syndrome [PMID: 18947413, PMID: 19744229].

GO terms

Biological Process

GO:0007224 smoothened signaling pathway

Molecular Function

No terms assigned in this category.

Cellular Component

No terms assigned in this category.

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.
PANTHER