Also known as BNAR, C9orf143, C9orf145, C9orf154, MOTA, TILRR, TRIGNO2, FRAS1 related extracellular matrix 1
FRAS1-related extracellular matrix protein 1 is a protein that in humans is encoded by the FREM1 gene.
The products of this gene play important roles both in embryonic development and as a modulator of the innate immune responses and inflammation. This gene encodes an extracellular matrix protein that is restricted to the dermis. It is secreted and forms complexes with FREM2 and FRAS1 gene products and is required to maintain epidermal adhesion during embryonic development. Pathogenic mutations in this gene have been implicated in Manitoba oculotrichoanal (MOTA) syndrome, bifid nose with or without anorectal and renal anomalies (BNAR syndrome), and congenital diaphragmatic hernia (CDH). A 715 aa isoform of this gene known as TILRR (Toll-like interleukin-receptor regulator) is expressed from an alternate promoter and is involved in controlling the inflammatory process. The encoded protein is a cell surface proteoglycan that is a co-receptor for IL-1 receptor type I (IL1RI). TILRR increases IL1R1 expression levels and regulates receptor function, leading to amplified activation of NF-kappaB and inflammatory responses. [provided by RefSeq, Apr 2026].
via MyGene.info
FRAS1-related extracellular matrix protein 1 is a protein that in humans is encoded by the FREM1 gene.
==References==
Discovered by embedding cosine similarity (sentence-transformers MiniLM, 384-dim).