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FREM1 extracellular matrix protein

The FREM1 gene encodes an extracellular matrix protein which is involved in regulation of development and immune response. Mutation cause autosomal recessive Fraser syndrome. Mutations are also 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:

BNAR syndrome
FREM1
Manitoba oculotrichoanal syndrome
FREM1
Trigonocephaly 2
FREM1

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.

Al-Gazali LI et al. (2002) An autosomal recessive syndrome of nasal anomalies associated with renal and anorectal malformations.

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3.

Alazami AM et al. (2009) FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome.

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4.

Slavotinek AM et al. (2011) Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.

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5.

None (2001) Micro-ablepharon of the upper eyelids and vaginal atresia.

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6.

Li C et al. (2007) Manitoba Oculotrichoanal (MOTA) syndrome: report of eight new cases.

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7.

Vissers LE et al. (2011) Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice.

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8.

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

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9.

Hudson RC et al. (2012) Bioinformatics Analysis of the FREM1 Gene-Evolutionary Development of the IL-1R1 Co-Receptor, TILRR.

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10.

Zhang X et al. (2012) Distinct control of MyD88 adapter-dependent and Akt kinase-regulated responses by the interleukin (IL)-1RI co-receptor, TILRR.

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11.

Rhodes DM et al. (2015) Computational Modelling of NF-κB Activation by IL-1RI and Its Co-Receptor TILRR, Predicts a Role for Cytoskeletal Sequestration of IκBα in Inflammatory Signalling.

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12.

OMIM.ORG article

Omim 608944 external link
13.

Orphanet article

Orphanet ID 220909 external link
14.

NCBI article

NCBI 158326 external link
15.

Wikipedia article

Wikipedia EN (FREM1) external link
Update: Aug. 14, 2020
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