Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Fraser syndrome
FRAS1
FREM2
GRIP1

References:

1.

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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2.

van Haelst MM et al. (2008) Molecular study of 33 families with Fraser syndrome new data and mutation review.

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3.

Smyth I et al. (2004) The extracellular matrix gene Frem1 is essential for the normal adhesion of the embryonic epidermis.

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4.

Jadeja S et al. (2005) Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs.

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5.

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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7.

Orphanet article

Orphanet ID 121927 [^]
8.

NCBI article

NCBI 341640 [^]
9.

OMIM.ORG article

Omim 608945 [^]
10.

Wikipedia article

Wikipedia EN (FREM2) [^]
Update: April 29, 2019