FREM1 : FRAS1 related extracellular matrix 1
Description
The FREM1 (FRAS1 related extracellular matrix 1) is a protein-coding gene located on chromosome 9.
The FREM1 gene provides instructions for creating a protein that is essential for the formation and organization of basement membranes. These membranes are thin, sheet-like structures that support and separate cells in many tissues. FREM1 works together with other proteins like FRAS1 and FREM2 during embryonic development. Basement membranes are important for attaching layers of epithelial cells (lining surfaces and cavities) to other embryonic tissues, including those that develop into connective tissues like skin and cartilage, and even the kidneys.
FREM1 is a protein that plays a critical role in the development of skin (epidermis). It helps in the process of skin cell differentiation and ensures proper attachment of skin layers during embryonic development.
FREM1 is also known as BNAR, C9orf143, C9orf145, C9orf154, MOTA, TILRR, TRIGNO2.
Associated Diseases
- Trigonocephaly 2
- Non-syndromic metopic craniosynostosis
- Manitoba oculotrichoanal syndrome
- BNAR syndrome
- Bifid nose with or without anorectal and renal anomalies
- Oculotrichoanal syndrome
- Coloboma
- Congenital anomalies of kidney and urinary tract
