NP_001171175.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
244,154 Da
NCBI Official Full Name
FRAS1-related extracellular matrix protein 1 isoform 2
NCBI Official Synonym Full Names
FRAS1 related extracellular matrix 1
NCBI Official Synonym Symbols
BNAR; MOTA; TILRR; TRIGNO2; C9orf143; C9orf145; C9orf154 [Similar Products]
NCBI Protein Information
FRAS1-related extracellular matrix protein 1; extracellular matrix protein QBRICK
UniProt Protein Name
FRAS1-related extracellular matrix protein 1
UniProt Synonym Protein Names
Protein QBRICK
UniProt Synonym Gene Names
UniProt Entry Name
FREM1_HUMAN
NCBI Summary for FREM1
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]
UniProt Comments for FREM1
FREM1: Extracellular matrix protein that plays a role in epidermal differentiation and is required for epidermal adhesion during embryonic development. Defects in FREM1 are the cause of bifid nose with or without anorectal and renal anomalies (BNAR). A bifid nose is a rare congenital deformity due to failure of the paired nasal processes to fuse to a single midline organ during early gestation. BNAR is an autosomal recessive disorder and patients usually present a bifid nose associated with renal and anorectal malformations. Defects in FREM1 are the cause of Manitoba oculotrichoanal syndrome (MOTA). MOTA is a rare condition defined by eyelid colobomas, cryptophthalmos, and anophthalmia/microphthalmia, an aberrant hairline, a bifid or broad nasal tip, and gastrointestinal anomalies such as omphalocele and anal stenosis. Defects in FREM1 are the cause of trigonocephaly type 2 (TRIGNO2). TRIGNO2 is a keel-shaped deformation of the forehead, caused by premature fusion of the metopic sutures. It results in a triangular shape of the head. Belongs to the FRAS1 family. 4 isoforms of the human protein are produced by alternative splicing.
Protein type: Secreted; Secreted, signal peptide
Chromosomal Location of Human Ortholog: 9p22.3
Cellular Component: integral to membrane; basement membrane
Molecular Function: metal ion binding; carbohydrate binding
Biological Process: cell-matrix adhesion; cell communication
Disease: Manitoba Oculotrichoanal Syndrome; Trigonocephaly 2; Bifid Nose With Or Without Anorectal And Renal Anomalies
Research Articles on FREM1
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Diseases associated with FREM1 elisa kit
Organs/Tissues associated with FREM1 elisa kit
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