FREM1 FRAS1 related extracellular matrix 1
Gene ID: 158326, updated on 10-Dec-2024Gene type: protein coding
Also known as: BNAR; MOTA; TILRR; TRIGNO2; C9orf143; C9orf145; C9orf154
- See all available tests in GTR for this gene
- Go to complete Gene record for FREM1
- Go to Variation Viewer for FREM1 variants
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| BNAR syndrome | See labs |
| Identification of 15 loci influencing height in a Korean population. GeneReviews: Not available | |
| Oculotrichoanal syndrome | See labs |
| Trigonocephaly 2 | See labs |
Genomic context
- Location:
- 9p22.3
- Sequence:
- Chromosome: 9; NC_000009.12 (14737152..14910995, complement)
- Total number of exons:
- 46
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for FREM1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- FREM1 database
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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