FRAS1 related extracellular matrix 1
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A FREM1 gene provides instructions for making a protein that is involved in the formation and organisation of basement membranes, which are thin, sheet-like structures that separate and support cells in many tissues.
Normal function
A FREM1 gene provides instructions for making a protein that is involved in the formation and organisation of basement membranes, which are thin, sheet-like structures that separate and support cells in many tissues.
The FREM1 protein is one of a group of proteins, including proteins called FRAS1 and FREM2, that interact during embryonic development as components of basement membranes. Basement membranes help anchor layers of cells lining the surfaces and cavities of the body (epithelial cells) to other embryonic tissues, including those that give rise to connective tissues (such as skin and cartilage) and the kidneys.
Conditions referring to this gene or chromosome
Other names
BNAR
C9orf143
C9orf145
C9orf154
extracellular matrix protein QBRICK
FLJ25461
FRAS1-related extracellular matrix protein 1
FREM1_HUMAN
TILRR
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Leitura adicional e referências
- FRAS1 related extracellular matrix 1; MedlinePlus, National Library of Medicine.
- Alazami AM, Shaheen R, Alzahrani F, Snape K, Saggar A, Brinkmann B, Bavi P, Al-Gazali LI, Alkuraya FS. FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome. Am J Hum Genet. 2009 Sep;85(3):414-8. doi: 10.1016/j.ajhg.2009.08.010.
- Pavlakis E, Chiotaki R, Chalepakis G. The role of Fras1/Frem proteins in the structure and function of basement membrane. Int J Biochem Cell Biol. 2011 Apr;43(4):487-95. doi: 10.1016/j.biocel.2010.12.016. Epub 2010 Dec 21.
- Slavotinek AM, Baranzini SE, Schanze D, Labelle-Dumais C, Short KM, Chao R, Yahyavi M, Bijlsma EK, Chu C, Musone S, Wheatley A, Kwok PY, Marles S, Fryns JP, Maga AM, Hassan MG, Gould DB, Madireddy L, Li C, Cox TC, Smyth I, Chudley AE, Zenker M. Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1. J Med Genet. 2011 Jun;48(6):375-82. doi: 10.1136/jmg.2011.089631. Epub 2011 Apr 20.
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