🧬 基因注释：FREM1
官方名称：FRAS1 related extracellular matrix 1
功能摘要：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].
- HNRNPM 综合评分: 0.412 · 证据 2 条
- HNRNPL 综合评分: 0.362 · 证据 2 条
- RBFOX2 综合评分: 0.362 · 证据 2 条
- SRSF9 综合评分: 0.362 · 证据 1 条
- HNRNPA1 综合评分: 0.350 · 证据 2 条
- HNRNPC 综合评分: 0.350 · 证据 2 条
- U2af1 综合评分: 0.336 · 证据 1 条
- FUS 综合评分: 0.300 · 证据 1 条
- HNRNPK 综合评分: 0.300 · 证据 2 条
- HNRNPU 综合评分: 0.300 · 证据 2 条
- KHSRP 综合评分: 0.300 · 证据 2 条
- SRSF2 综合评分: 0.300 · 证据 1 条
- fus 综合评分: 0.300 · 证据 1 条
- U2af2 综合评分: 0.274 · 证据 1 条
- PRPF8 综合评分: 0.262 · 证据 1 条
- TIA1 综合评分: 0.250 · 证据 1 条
- Srsf1 综合评分: 0.212 · 证据 1 条
- MATR3 综合评分: 0.200 · 证据 1 条
- PCBP2 综合评分: 0.200 · 证据 1 条
- SF3A3 综合评分: 0.200 · 证据 1 条
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