FRAS1-related extracellular matrix protein 2

Definition:

Extracellular matrix protein required for maintenance of the integrity of the skin epithelium and for maintenance of renal epithelia. Required for epidermal adhesion. Involved in the development of eyelids and the anterior segment of the eyeballs.

References:

[1]. Xiayin Zhang, et al. Loss-of-function mutations in FREM2 disrupt eye morphogenesis. Exp Eye Res. 2019 Apr;181:302-312. [Content Brief]

[2]. Qian Yu, et al. A homozygous mutation p.Arg2167Trp in FREM2 causes isolated cryptophthalmos. Hum Mol Genet. 2018 Jul 1;27(13):2357-2366. [Content Brief]

[3]. Shalini Jadeja, et al. Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs. Nat Genet. 2005 May;37(5):520-5. [Content Brief]

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