Entrez Summary: This gene encodes an integral membrane protein containing numerous CSPG (chondroitin sulfate proteoglycan element) repeats and Calx-beta domains. The encoded protein localizes to the basement membrane, forming a ternary complex that plays a role in epidermal-dermal interactions. This protein is important for the integrity of skin and renal epithelia. Mutations in this gene are associated with Fraser syndrome. [provided by RefSeq, Apr 2014].
UniProt Summary: Extracellular matrix protein required for maintenance of the integrity of the skin epithelium and for maintenance of renal epithelia. May be required for epidermal adhesion. {ECO:0000269|PubMed:15838507}.
Pfam DomainsGO Terms
Pfam Domains
Calx-beta
GO Terms
embryonic digit morphogenesis
basement membrane
embryonic limb morphogenesis
embryonic appendage morphogenesis
limb morphogenesis
appendage morphogenesis
appendage development
limb development
inner ear development
ear development
eye development
visual system development
sensory system development
morphogenesis of an epithelium
heart development
sensory organ development
tissue morphogenesis
embryonic morphogenesis
circulatory system development
cell adhesion
biological adhesion
embryo development
epithelium development
tissue development
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)