FREM2 : FRAS1 related extracellular matrix 2
Description
The FREM2 (FRAS1 related extracellular matrix 2) is a protein-coding gene located on chromosome 13.
The FREM2 gene provides instructions for producing a protein that is part of the FRAS/FREM complex. FREM2 not only contributes to the complex but also regulates its formation. This complex is found in basement membranes, thin, sheet-like structures supporting cells in many tissues. Its crucial role is particularly evident during fetal development, where it anchors the skin's top layer by connecting its basement membrane to the underlying layer. The FRAS/FREM complex also contributes to the proper development of organs and tissues like the kidneys, although the exact mechanisms remain unclear.
FREM2 is an extracellular matrix protein essential for maintaining the integrity of both the skin and renal epithelium. It plays a crucial role in epidermal adhesion and contributes to the development of eyelids and the anterior segment of the eyeballs. These functions have been experimentally validated (PubMed:15838507, PubMed:29688405, PubMed:30802441).
FREM2 is also known as CRYPTOP, FRASRS2.
Associated Diseases
- Fraser syndrome 2
- Fraser syndrome
- Cryptophthalmos, unilateral or bilateral, isolated
- Coloboma
- Congenital anomalies of kidney and urinary tract
