Gene: FREM1

Alternate names for this Gene: BNAR|C9orf143|C9orf145|C9orf154|MOTA|TILRR|TRIGNO2

Gene Summary: This gene encodes a basement membrane protein that may play a role in craniofacial and renal development. Mutations in this gene have been associated with bifid nose with or without anorectal and renal anomalies. Alternatively spliced transcript variants encoding different isoforms have been described. PubMed ID 19940113 describes one such variant that initiates transcription within a distinct, internal exon; the resulting shorter isoform (named Toll-like/interleukin-1 receptor regulator, TILRR) is suggested to be a co-receptor of the interleukin 1 receptor family and may regulate receptor function and Toll-like receptor/interleukin 1 receptor signal transduction, contributing to the control of inflammatory response activation.

Gene is located in Chromosome: 9

Location in Chromosome : 9p22.3

Description of this Gene: FRAS1 related extracellular matrix 1

Type of Gene: protein-coding

rs121912609 in FREM1 gene and Bifid Nose With Or Without Anorectal And Renal Anomalies PMID 19732862 2009 FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome.

rs10733289 in FREM1 gene and Body mass index PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs200861231 in FREM1 gene and Body mass index procedure PMID 23555315 2013 Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population.

rs1048070 in FREM1 gene and Cardiovascular Diseases PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs200861231 in FREM1 gene and Finding of body mass index PMID 23555315 2013 Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population.

rs281875282 in FREM1 gene and Marles Greenberg Persaud syndrome PMID 21507892 2011 Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.

PMID 28111185 2017 Novel FREM1 mutations in a patient with MOTA syndrome: Clinical findings, mutation update and review of FREM1-related disorders literature.

rs184394424 in FREM1 gene and TRIGONOCEPHALY 2 PMID 21931569 2011 Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice.