Family

Limbin/Ellis-van Creveld protein (IPR026501)

Short name: Limbin/Ellis-van_Creveld

Family relationships

Description

EVC is a protein mutated in the human chondroectodermal dysplasia Ellis-van Creveld syndrome. Limbin or EVC2 interacts with AVC [PMID: 21356043]. They act as positive mediators of Hedgehog signaling and play a critical role in bone formation and skeletal development [PMID: 17660199].

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