FREM2 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human FREM2 wild-type allele is located in the vicinity of 13q13.3 and is approximately 200 kb in length. This allele, which encodes FRAS1-related extracellular matrix protein 2, plays a role in epidermal adhesion, renal epithelial integrity and the development of eyelids and the anterior eye segment. Mutations in the gene are associated with Fraser syndrome 2 and isolated cryptophthalmos.

**Synonyms:** - CRYPTOP - ECM3 Homolog Gene - FRAS1 Related Extracellular Matrix 2 wt Allele - FRAS1 Related Extracellular Matrix Protein 2 Gene - FRASRS2