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  4. Recombinant Human FERM domain-containing protein 7 (FRMD7)

Recombinant Human FERM domain-containing protein 7 (FRMD7)

  • 货号：
    CSB-YP744425HU
  • 规格：
  • 来源：
    Yeast
  • 其他：
  • 货号：
    CSB-EP744425HU
  • 规格：
  • 来源：
    E.coli
  • 其他：
  • 货号：
    CSB-EP744425HU-B
  • 规格：
  • 来源：
    E.coli
  • 共轭：
    Avi-tag Biotinylated

    E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.

  • 其他：
  • 货号：
    CSB-BP744425HU
  • 规格：
  • 来源：
    Baculovirus
  • 其他：
  • 货号：
    CSB-MP744425HU
  • 规格：
  • 来源：
    Mammalian cell
  • 其他：

产品详情

  • 纯度：
    >85% (SDS-PAGE)
  • 基因名：
    FRMD7
  • Uniprot No.：
  • 别名：
    FRMD7FERM domain-containing protein 7
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    full length protein
  • 表达区域：
    1-714
  • 氨基酸序列
    MLHLKVQFLD DSQKIFVVDQ KSSGKALFNL SCSHLNLAEK EYFGLEFCSH SGNNVWLELL KPITKQVKNP KEIVFKFMVK FFPVDPGHLR EELTRYLFTL QIKKDLALGR LPCSDNCTAL MVSHILQSEL GDFHEETDRK HLAQTRYLPN QDCLEGKIMH FHQKHIGRSP AESDILLLDI ARKLDMYGIR PHPASDGEGM QIHLAVAHMG VLVLRGNTKI NTFNWAKIRK LSFKRKHFLI KLHANILVLC KDTLEFTMAS RDACKAFWKT CVEYHAFFRL SEEPKSKPKT LLCSKGSSFR YSGRTQRQLL EYGRKGRLKS LPFERKHYPS QYHERQCRSS PDLLSDVSKQ VEDLRLAYGG GYYQNVNGVH ASEPVLESRR RNSALEVTFA TELEHSKPEA DPTLLHQSQS SSSFPFIYMD PVFNTEPNPN PDPRDIFSER SSLSSFQTSC KFSGNHMSIY SGLTSKVRPA KQLTYTDVPY IPCTGQQVGI MPPQVFFYVD KPPQVPRWSP IRAEERTSPH SYVEPTAMKP AERSPRNIRM KSFQQDLQVL QEAIARTSGR SNINVGLEEE DPNLEDAFVC NIQEQTPKRS QSQSDMKTIR FPFGSEFRPL GPCPALSHKA DLFTDMFAEQ ELPAVLMDQS TAERYVASES SDSESEILKP DYYALYGKEI RSPMARIRLS SGSLQLDEED EDAYFNTPTA EDRTSLKPCN YFLA
  • 蛋白标签：
    Tag type will be determined during the manufacturing process.
    The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
  • 产品提供形式：
    Lyophilized powder
    Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
  • 复溶：
    We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
  • 储存条件：
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保质期：
    The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
    Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
  • 货期：
    Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
    Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
  • 注意事项：
    Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
  • Datasheet ：
    Please contact us to get it.

产品评价

靶点详情

  • 功能：
    Plays a role in neurite development, may be through the activation of the GTPase RAC1. Plays a role in the control of eye movement and gaze stability.
  • 基因功能参考文献：
    1. A novel mutation in the FRMD7 gene causing idiopathic congenital nystagmus was identified G to T transition (c.886G>T) in exon 9 that resulted in the conservative substitution of a glycine to a cysteine at codon 296. PMID: 30015830
    2. These results enriched the gene mutation spectrum of FRMD7. PMID: 28656292
    3. infantile nystagmus syndrome with FRMD7 mutations in our cases was caused primarily de novo and missense mutations PMID: 28623544
    4. Our findings provide further insights into FRMD7 mutations, which could be helpful for future genetic diagnosis and genetic counselling of Chinese patients with nystagmus. PMID: 27036142
    5. We also demonstrated abnormal developments of afferent system in patients with FRMD7 mutations using optical coherence tomography, which may help to understand the etiological factor in development of nystagmus PMID: 26268155
    6. this study adds a novel mutation (p.I240T) to the existing spectrum of FRMD7 mutations with Congenital, X-Linked Nystagmus. PMID: 24169426
    7. we report three novel mutations in FRMD7 in three independent families with XLICN, and provide molecular insights for future XLICN diagnosis and treatment. PMID: 24434814
    8. a novel mutation c.556A>G (p.M186V) in the gene FRMD7 causes X-linked idiopathic congenital nystagmus in a North Indian family PMID: 25916882
    9. We investigated the role of mutations and copy number variations (CNV) of FRMD7 and GPR143 in the molecular pathogenesis of IIN in 49 unrelated Belgian probands. PMID: 25678693
    10. Abnormal retinal development is associated with FRMD7 mutations. PMID: 24688117
    11. A nonsense mutation (R335X) in the FRMD7 gene was identified in 4 male patients and an asymptomatic female member. PMID: 24513357
    12. FERM domain containing protein 7 interacts with the Rho GDP dissociation inhibitor and specifically activates Rac1 signaling. PMID: 23967341
    13. Our results expand the spectrum of FRMD7 mutations in association with XLICN, and further confirm that the mutations of FRMD7 are the underlying molecular mechanism for XLICN. PMID: 23733424
    14. a model whereby CASK recruits FRMD7 to the plasma membrane to promote neurite outgrowth during development of the oculomotor neural network and that defects in this interaction result in nystagmus. PMID: 23406872
    15. the identified FRMD7 mutant influences GTPase Rac1 signaling, which regulates neurite development. PMID: 23946638
    16. A novel missense mutation, c.A917G, was found in family members with congenital nystagmus. PMID: 22490987
    17. A novel splicing mutation, (c.163-1 G>T), was detected in the region preceding exon 3 of FRMD7 in a Chinese family patients with X-linked congenital nystagmus. PMID: 22262942
    18. A novel splice variant of FRMD7 (FRMD7-S) with a shortened exon 4 relative to the original form of FRMD7 (FRMD7-FL) was identified from the cDNA of the human NT2 cell line and mouse fetal brain. PMID: 22128244
    19. A previously unreported 4 base-pair deletion in the FRMD7 gene (c.1486-1489 del. TTTT) that causes X-linked idiopathic congenital nystagmus has been identified in a Chinese family. PMID: 22065930
    20. Clinicians can use the OKN drum to assess obligate female carriers in a family suspected of having X-linked nystagmus. PMID: 21746984
    21. identified a novel mutation, c. 623A>G (p. H208R) in the FRMD7 gene, in a Han Chinese family with infantile nystagmus PMID: 21365021
    22. Differences in nystagmus characteristics associated with albinism and those associated with FRMD7 mutations leading to idiopathic infantile nystagmus are described for the first-time PMID: 21220551
    23. FRMD7 may play an important role in the brainstem in the early stages of development of the human fetal brain, and provides clues for the mechanism of mutation FRMD7, which may be involved in influencing F-actin dynamics. PMID: 21386928
    24. This study showed that mutations in FRMD7 can cause idiopathic infantile periodic alternating nystagmus and may affect neuronal circuits that have been implicated in acquired forms. PMID: 21303855
    25. Here we show for the first time that large intragenic deletions of FRMD7 can also cause this form of nystagmus. PMID: 20450309
    26. FRMD7 expression is spatially and temporally regulated in human and mouse brain during embryonic and fetal development. PMID: 19892780
    27. Restricted expression of FRMD7 in human embryonic brain and developing neural retina, suggesting a specific role in the control of eye movement and gaze stability. PMID: 17013395
    28. report of five novel mutations in FRMD7 and confirm the role of this gene in the pathogenesis of X-linked congenital nystagmus PMID: 17397053
    29. These results provide additional evidence for mutations in FRMD7 as a common cause of X-linked congenital motor nystagmus and expand its mutation spectrum. PMID: 17768376
    30. We demonstrate that phenotypic variation of nystagmus occurs in families with FRMD7 mutations PMID: 17846367
    31. Mutation screening in the FRMD7 gene identified two novel missense mutations (c.781C>G and c.886G>C) and one reported nonsense mutation (c.1003C>T). PMID: 17893669
    32. A novel p.R229G missense mutation in the FRMD7 gene causes the NYS phenotype, and skewed X inactivation influences the manifestation of the disease in X linked NYS females. PMID: 17962394
    33. The c.425T>G change is predicted to result in the missense substitution of the leucine at codon 142 for an arginine (p.L142R), and supports a causative role for FRMD7 mutations in the pathogenesis of X-linked idiopathic infantile nystagmus. PMID: 18087240
    34. Sequencing FRMD7 revealed a G>T transversion (c.812G>T) in exon 9, which caused a conservative substitution of Cys to Phe at codon 271 (p.C271F). PMID: 18246032
    35. The mutation of G990T of the FRMD7 gene is the underlying molecular pathogenesis for a family with congenital nystagmus. PMID: 18247295
    36. This is first report that five kinds of FRMD7 gene mutation types occurred in Chinese families with Infantile nystagmus (IN), which further support that FRMD7 gene mutations are the underlying pathogenesis of the molecular mechanism for IN. PMID: 18431453
    37. identified a novel frameshift mutation (c.1274-1275delTG) in the FRMD7 gene in six X-linked idiopathic congenital nystagmus pedigrees in China PMID: 19072571
    38. X-linked recessive congenital motor nystagmus mapped to a region overlapped with that for X-linkaged dominant form. PMID: 16240070

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  • 相关疾病：
    Nystagmus congenital X-linked 1 (NYS1)
  • 亚细胞定位：
    Cell projection, neuron projection. Cell projection, growth cone.
  • 组织特异性：
    Expressed in liver, kidney, pancreas and at low levels in brain and heart. Expressed in embryonic brain and developing neural retina.
  • 数据库链接：

    HGNC: 8079

    OMIM: 300628

    KEGG: hsa:90167

    STRING: 9606.ENSP00000298542

    UniGene: Hs.170776