FREM2 Antibody – Rabbit Polyclonal

This gene encodes a membrane protein that belongs to the FRAS1 family. This extracellular matrix protein is thought to be required for maintaining the integrity of the skin epithelium and the differentiated state of renal epithelia. The protein localizes to the basement membrane, forming a ternary complex that plays a role in epidermal-dermal interactions during morphogenetic processes. Mutations in this gene are associated with Fraser syndrome. [provided by RefSeq, Jul 2008]

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: integral to membrane; plasma membrane; basement membrane

Molecular Function: calcium ion binding

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

Disease: Fraser Syndrome