Aliases for FREM1 Gene
External Ids for FREM1 Gene
Previous HGNC Symbols for FREM1 Gene
Previous GeneCards Identifiers for FREM1 Gene
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]
GeneCards Summary for FREM1 Gene
FREM1 (FRAS1 Related Extracellular Matrix 1) is a Protein Coding gene. Diseases associated with FREM1 include Manitoba Oculotrichoanal Syndrome and Bifid Nose With Or Without Anorectal And Renal Anomalies. Among its related pathways are Integrin Pathway and Phospholipase-C Pathway. Gene Ontology (GO) annotations related to this gene include calcium ion binding and carbohydrate binding. An important paralog of this gene is FREM2.
UniProtKB/Swiss-Prot Summary for FREM1 Gene
Extracellular matrix protein that plays a role in epidermal differentiation and is required for epidermal adhesion during embryonic development.