FREM2 Antibody – Goat Polyclonal

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]

FREM2: 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. Defects in FREM2 are a cause of Fraser syndrome (FRASS). Fraser syndrome is a multisystem malformation usually comprising cryptophthalmos, cutaneous syndactyly, ear abnormalities, renal agenesis and congenital heart defects. Belongs to the FRAS1 family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Membrane protein, integral; Extracellular matrix

Chromosomal Location of Human Ortholog: 13q13.3

Cellular Component: basement membrane; integral to membrane; plasma membrane

Molecular Function: metal ion binding

Biological Process: cell adhesion; cell communication; heart development; inner ear development; morphogenesis of an epithelium

Disease: Fraser Syndrome