Anti-FREM1 Antibody (CAB16603)
- SKU:
- CAB16603
- Product type:
- Antibody
- Reactivity:
- Human
- Reactivity:
- Mouse
- Reactivity:
- Rat
- Host Species:
- Rabbit
- Isotype:
- IgG
- Antibody Type:
- Polyclonal Antibody
- Research Area:
- Cell Biology
Frequently bought together:
Description
抗体名: | Anti-FREM1 Antibody |
抗体コード: | CAB16603 |
抗体サイズ: | 20uL, 50uL, 100uL |
申し込み: | WB |
反応性: | Human, Mouse, Rat |
宿主種: | Rabbit |
免疫原: | Recombinant fusion protein containing a sequence corresponding to amino acids 1880-2179 of human FREM1 (NP_659403.4). |
申し込み: | WB |
推奨希釈: | WB 1:500 - 1:2000 |
反応性: | Human, Mouse, Rat |
ポジティブサンプル: | 293T, K-562, HepG2, Mouse kidney, Mouse liver, Rat liver |
免疫原: | Recombinant fusion protein containing a sequence corresponding to amino acids 1880-2179 of human FREM1 (NP_659403.4). |
精製方法: | Affinity purification |
ストレージバッファ: | Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3. |
アイソタイプ: | IgG |
順序: | GSSS STTS GSFH LERR PLPS SMQL AVIR GDTL RGFD STDL SQRK LRTR GNGK TVRP SSVY RNGT DIIY NYHG IVSL KLED DSFP THKR KAKV SIIS QPQK TIKV AELP QADK VEST TDSH FPRQ DQLP SFPK NCTL ELKG LFHF EEGI QKLY QCNG IAWK AWSP QTKD VEDK SCPA GWHQ HSGY CHIL ITEQ KGTW NAAA QACR EQYL GNLV TVFS RQHM RWLW DIGG RKSF WIGL NDQV HAGH WEWI GGEP VAFT NGRR GPSQ RSKL GKSC VLVQ RQGK WQTK DCRR AKPH NYVC SRKL |
遺伝子ID: | 158326 |
Uniprot: | Q5H8C1 |
セルラーロケーション: | Secreted, basement membrane, extracellular matrix, extracellular space |
計算された分子量: | 25kDa/42kDa/80kDa/244kDa |
観察された分子量: | 72kDa |
同義語: | FREM1, BNAR, C9orf143, C9orf145, C9orf154, MOTA, TILRR, TRIGNO2 |
バックグラウンド: | 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. |
UniProt Protein Function: | 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. |
UniProt Protein Details: | 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: Trigonocephaly 2; Manitoba Oculotrichoanal Syndrome; Bifid Nose With Or Without Anorectal And Renal Anomalies |
NCBI 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] |
UniProt Code: | Q5H8C1 |
NCBI GenInfo Identifier: | 122056683 |
NCBI Gene ID: | 158326 |
NCBI Accession: | NP_659403 |
UniProt Secondary Accession: | Q5H8C1,Q684R7, |
UniProt Related Accession: | Q5H8C1 |
Molecular Weight: | 25,008 Da |
NCBI Full Name: | FRAS1-related extracellular matrix protein 1 isoform 1 |
NCBI Synonym Full Names: | FRAS1 related extracellular matrix 1 |
NCBI Official Symbol: | FREM1 |
NCBI Official Synonym Symbols: | BNAR; MOTA; TILRR; TRIGNO2; C9orf143; C9orf145; C9orf154 |
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 |
Protein Family: | FRAS1-related extracellular matrix protein |
UniProt Gene Name: | FREM1 |
UniProt Entry Name: | FREM1_HUMAN |
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