Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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Extracellular matrix protein FRAS1

The FRAS1 gee encodes an extracellular matrix protein responsible for matrix adhesion which plays an important role during development. Mutations cause autosomal recessive Fraser syndrome.

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.

Darling S et al. (1994) A mouse model for Fraser syndrome?

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3.

McGregor L et al. (2003) Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein.

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4.

Vrontou S et al. (2003) Fras1 deficiency results in cryptophthalmos, renal agenesis and blebbed phenotype in mice.

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5.

Slavotinek A et al. (2006) Mutation analysis of the FRAS1 gene demonstrates new mutations in a propositus with Fraser syndrome.

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6.

Cavalcanti DP et al. (2007) Fraser and Ablepharon macrostomia phenotypes: concurrence in one family and association with mutated FRAS1.

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7.

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

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8.

Petrou P et al. (2005) Basement membrane distortions impair lung lobation and capillary organization in the mouse model for fraser syndrome.

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9.

Pitera JE et al. (2008) Fras1, a basement membrane-associated protein mutated in Fraser syndrome, mediates both the initiation of the mammalian kidney and the integrity of renal glomeruli.

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10.

Orphanet article

Orphanet ID 121922 external link
11.

NCBI article

NCBI 80144 external link
12.

OMIM.ORG article

Omim 607830 external link
13.

Wikipedia article

Wikipedia EN (FRAS1) external link
Update: Aug. 14, 2020
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