Recombinant Human FRAS1-related extracellular matrix protein 1 (FREM1), partial

1. we identified genome-wide significant association involving measures of central upper lip height at 9p22 within FREM1 PMID: 28441456
2. FREM1 expression is significantly downregulated in human masticatory mucosa during wound healing PMID: 28005267
3. this report describes a patient with a phenotype compatible with Manitoba-oculo-tricho-anal syndrome in whom two novel FREM1 mutations were identified in the compound heterozygous state thus broadening the mutational spectrum of the disease. PMID: 28111185
4. Disruption of the FREM1 gene can produce a spectrum of clinical manifestations encompassing the previously described MOTA and BNAR syndromes. PMID: 23401257
5. We conclude that FREM1 plays a critical role in the development of the diaphragm and that FREM1 deficiency can cause CDH in both humans and mice. PMID: 23221805
6. The significant association of rs1552896 with an HIV-resistant phenotype, together with the expression profile of FREM1 in tissues relevant to HIV infection, suggests that FREM1 is a potentially novel candidate gene for resistance to HIV infection. PMID: 22915813
7. The location of the IBD region 16 kb from FREM1 suggests the phenotype in Manitoba oculotrichoanal syndrome patients is attributable to a variant outside of FREM1, potentially in a regulatory element. PMID: 22690109
8. FREM1 encodes a basement membrane protein of FRAS1-related extracellular matrix protein 1 which is required for epidermal adhesion during embryonic development PMID: 22876578
9. a role for TILRR in selective amplification of NF-kappaB responses through IL-1RI and suggest that the specificity is determined by changes in receptor conformation and adapter protein recruitment. PMID: 22262840
10. These data suggest that copy number variations and mutations involving FREM1 can be identified in a significant percentage of people with MC with or without midface hypoplasia. PMID: 21931569
11. Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1. FREM1 deficiency ties the molecular cause of MOTA syndrome closely to the pathogenesis of Fraser syndrome. PMID: 21507892
12. TILRR, an isoform encoded by an alternatively spliced FREM1 mRNA, is an IL-1RI co-receptor that associates with the signaling receptor complex to enhance recruitment of MyD88 and control Ras-dependent amplification of NF-kappaB and inflammatory responses. PMID: 19940113
13. The phenotypic variability reported for different Frem1 mouse mutants suggests that the apparently distinct phenotype of bifid nose and anorectal and renal anomalies syndrome in humans may represent a previously unrecognized variant of Fraser syndrome. PMID: 19732862

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HGNC: 23399

OMIM: 248450

KEGG: hsa:158326

STRING: 9606.ENSP00000370262

UniGene: Hs.50850