FREM1, Official Symbol FREM1provided by HGNC Official Full Name FRAS1 related extracellular matrix 1provided by HGNC Primary source HGNC:HGNC:23399 See related Ensembl:ENSG00000164946 MIM:608944; AllianceGenome:HGNC:23399 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as BNAR; MOTA; TILRR; TRIGNO2; C9orf143; C9orf145; C9orf154 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. [provided by RefSeq, Apr 2011] Expression Broad expression in endometrium (RPKM 5.0), kidney (RPKM 2.2) and 14 other tissues See more Orthologs mouse all