FREM2 matrix protein
The FREM2 gene encodes a membrane Protein which is responsible for epithelial integrity of skin and renal epithelia. Mutations cause autosomal recessive Fraser syndrome and are associated with kidney malformations.
Genetests:
Related Diseases:
References:
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Kiyozumi D et al. (2006) Breakdown of the reciprocal stabilization of QBRICK/Frem1, Fras1, and Frem2 at the basement membrane provokes Fraser syndrome-like defects.
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van Haelst MM et al. (2008) Molecular study of 33 families with Fraser syndrome new data and mutation review.
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Smyth I et al. (2004) The extracellular matrix gene Frem1 is essential for the normal adhesion of the embryonic epidermis.
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Jadeja S et al. (2005) Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs.
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Shafeghati Y et al. (2008) Fraser syndrome due to homozygosity for a splice site mutation of FREM2.
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6. |
Timmer JR et al. (2005) Tissue morphogenesis and vascular stability require the Frem2 protein, product of the mouse myelencephalic blebs gene.
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Orphanet article
Orphanet ID 121927
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NCBI article
NCBI 341640
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9. |
OMIM.ORG article
Omim 608945
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10. |
Wikipedia article
Wikipedia EN (FREM2)
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Update: Aug. 14, 2020