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FREM2 encodes a membrane protein that belongs to the FRAS1 family.
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In 15 of 590 families, we identified recessive mutations in the genes FRAS1 (显示 FRAS1 抗体), FREM2, GRIP1 (显示 NCOA2 抗体), FREM1 (显示 FREM1 抗体), ITGA8, and GREM1 (显示 GREM1 抗体), all of which function in the interaction of the ureteric bud and the metanephric mesenchyme.
Amplification of the FREM2 gene is associated with mesenchymal differentiation in gliosarcoma.
Heterozygous missense mutations in FREM2 cause non-syndromic congenital abnormalities of the kidney and urinary tract in humans.
report on 2 fetuses affected by Fraser syndrome (FS); a homozygous IVS14 + 1G -- A mutation in FREM2 was indentified; present report provides additional evidence that FS may be caused by complete or near-complete lack or loss of function of FREM2 protein
1 new mutation in FREM2 was identified in families with Fraser syndrome.
Report Fras1 (显示 FRAS1 抗体) up-regulation/Frem down-regulation in nephrons from mice with polycystic kidney disease and Frem2 mutations.
The QBRICK (显示 FREM1 抗体), together with Frem2, defines the ability of BMs to bind integrin 81 through modulating the BM assembly of nephronectin (显示 NPNT 抗体), thereby regulating the integrin 81-mediated signals transmitted from the ureteric buds to the metanephric mesenchyme.
expression of Frem2 may dynamically alter the extracellular matrix to provide a substrate for cell migration and rearrangements during embryogenesis
QBRICK/Frem1 (显示 FREM1 抗体), Fras1 (显示 FRAS1 抗体), and Frem2 interactions at the basement membrane have roles in preventing Fraser syndrome-like defects
Study reports a comparative analysis of the spatiotemporal localization of Fras1, Frem1, Frem2 and Frem3 proteins during mouse embryonic development.
Fras1 (显示 FRAS1 抗体) is not only essential as a component of a macromolecular complex for the extracellular stabilization of Frem2 but it is also required for its proper intracellular trafficking and export from embryonic epithelial cells.
The localization pattern of Fras1 (显示 FRAS1 抗体) and Frem2 was indistinguishable, while both proteins along with Frem3 could be detected even in the absence of Frem1 (显示 FREM1 抗体).
This gene encodes a membrane protein that belongs to the FRAS1 family. This extracellular matrix protein is thought to be required for maintaining the integrity of the skin epithelium and the differentiated state of renal epithelia. The protein localizes to the basement membrane, forming a ternary complex that plays a role in epidermal-dermal interactions during morphogenetic processes. Mutations in this gene are associated with Fraser syndrome.
, FRAS1-related extracellular matrix protein 2
, NV domain containing protein NV1
, NV domain-containing protein 1