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  4. Recombinant Human Unconventional myosin-VIIa (MYO7A), partial

Recombinant Human Unconventional myosin-VIIa (MYO7A), partial

  • 货号：
    CSB-EP622657HU
  • 规格：
    ￥1836
  • 图片：
    • (Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.
  • 其他：

产品详情

  • 纯度：
    Greater than 90% as determined by SDS-PAGE.
  • 基因名：
    MYO7A
  • Uniprot No.：
  • 别名：
    MYO7A; USH1B; Unconventional myosin-VIIa
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    Partial
  • 来源：
    E.coli
  • 分子量：
    31.3kDa
  • 表达区域：
    838-968aa
  • 氨基酸序列
    WAVLTVQAYARGMIARRLHQRLRAEYLWRLEAEKMRLAEEEKLRKEMSAKKAKEEAERKHQERLAQLAREDAERELKEKEAARRKKELLEQMERARHEPVNHSDMVDKMFGFLGTSGGLPGQEGQAPSGFE
    Note: The complete sequence including tag sequence, target protein sequence and linker sequence could be provided upon request.
  • 蛋白标签：
    N-terminal 6xHis-SUMO-tagged
  • 产品提供形式：
    Liquid or 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.
  • 缓冲液：
    Tris-based buffer,50% glycerol
  • 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：
    Basically, we can dispatch the products out in 1-3 working days after receiving your orders. 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 & COA：
    Please contact us to get it.

产品评价

靶点详情

  • 功能：
    Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Their highly divergent tails bind to membranous compartments, which are then moved relative to actin filaments. In the retina, plays an important role in the renewal of the outer photoreceptor disks. Plays an important role in the distribution and migration of retinal pigment epithelial (RPE) melanosomes and phagosomes, and in the regulation of opsin transport in retinal photoreceptors. In the inner ear, plays an important role in differentiation, morphogenesis and organization of cochlear hair cell bundles. Involved in hair-cell vesicle trafficking of aminoglycosides, which are known to induce ototoxicity. Motor protein that is a part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal hearing.
  • 基因功能参考文献：
    1. pathogenic mutation c.2011G>A identified in Chinese family with autosomal dominant hearing loss PMID: 29400105
    2. We report here novel homozygous mutations in various genes causing USH, extending the spectrum of causative mutations. We also prove combined sequencing techniques as useful tools to identify novel disease-causing mutations. To the best of our knowledge, this is the largest report of a genetic analysis of Israeli and Palestinian families (n = 74) with different USH subtypes. PMID: 29490346
    3. This study extends the spectrum of known MYO7A mutations and proves next generation sequencing as a valuable tool in molecular diagnosis of Usher syndrome. PMID: 29605349
    4. These findings broaden the phenotype spectrum of the MYO7A gene, and may facilitate understanding of the molecular pathogenesis of the disease, and genetic counseling for the family. PMID: 28731162
    5. a novel stop gained variant c.4513G > T (p.Glu1505Ter) in MYO7A was found in an Iranian pedigree with two affected members with USH type 1 PMID: 29287847
    6. Two pathogenic variations (c.849+2T>C and c.5994G>A) in MYO7A were successfully identified and individually separated from parents PMID: 29287864
    7. We found a remarkable genetic heterogeneity in the studied families with USH1 with a variety of mutations, among which three were novel. These novel mutations will be included in the NADf mutation screening chip that will allow a higher diagnosis efficiency of this extremely genetically heterogeneous disease. PMID: 27440999
    8. Patients carrying mutations in MYO7A had a younger age of onset of hearing and visual impairments than those carrying mutations in USH2A, leading to an earlier diagnosis of the disease in the former patients. PMID: 27828912
    9. We suggest that this new mutation named c.6079_6081del (p.H2027del) is the main cause of deaf-blindness found in this family clinically diagnosed as USH1B. PMID: 26864046
    10. Results show the structures of Myo7a IQ5-SAH (single a helix) lever arm extension in complex with apo- and Ca2+-CaM, respectively, reveal that the motor contains an extended and rigid lever arm at low Ca2+ concentration conditions. Increased cellular Ca2+ concentration induces conformational flexibility of the motor and thus regulates its activity. PMID: 28262393
    11. novel mutation c.3847_3848insTCTG (p. N1285LfsX24) in compound heterozygosity with c.2239_2240delAG in the MYO7A gene is the main cause of USH1 in the proband PMID: 28688563
    12. report the results of genetic analyses performed on Moroccan families with autosomal recessive non syndromic hearing loss that identified two families with compound heterozygous MYO7A mutations PMID: 28472130
    13. myosin VIIa movement appears to be suitable for translocating USH1 proteins on stereocilia actin bundles in inner-ear hair cells PMID: 28507101
    14. In USH1B-MYO7A, constriction rate of EZ extent depends on the initial eccentricity of the transition. Ellipsoid zone edges in the macula correspond to large local changes in cone vision, but extramacular EZ edges show more pronounced losses on rod-based vision tests. PMID: 27409480
    15. An unreported splice site mutation c.3924+1G > C compound with c.6028G > A in the MYO7A gene were detected to cosegregate with Usher syndrome type 2 in a Han Chinese family. PMID: 27729122
    16. There are more than 39 deafness genes reported to cause non-syndromic hereditary hearing loss (HHL) in Iran, of which the most prevalent causative genes include GJB2, SLC26A4, MYO15A, and MYO7A. In addition, we highlight some of the more common genetic causes of syndromic HHL in Iran. [review] PMID: 27743438
    17. This study showed that Mendelian sensorineural hearing loss exhibits vestibular dysfunction, including DFNA9, DFNA11, DFNA15 and DFNA28. PMID: 27083884
    18. The novel compound heterozygous mutations (c.3671C>A and c.390_391insC) in MYO7A gene identified in this study were responsible for the autosomal recessive sensorineural hearing loss of this Chinese family PMID: 26968074
    19. MYO7A binds to and impinges on CASPASE-8, revealing a new regulatory axis affecting RIPK1>CASPASE-8 signaling. Results expose a conserved role for unconventional myosins in transducing caspase-dependent regulation of kinases. PMID: 26960254
    20. The genetic correction of MYO7A mutation resulted in morphologic and functional recovery of hair cell-like cells derived from induced pluripotent stem cells from a deaf patient. PMID: 27013738
    21. c.6377delC mutation in significant proportion of Usher syndrome in indigenous South Africans PMID: 26469752
    22. Ten variants in the MYO7A gene and 34 variants in the USH2A gene were detected in Italian patients with Usher syndrome at a high detection rate. PMID: 25558175
    23. concluded that the USH1 in this family was caused by compound heterozygous mutations in MYO7A PMID: 25080338
    24. Electron microscopy revealed that myosin VIIA is a monomer in which the tail domain bends back toward the head-neck domain to form a compact structure. This compact structure is extended at high ionic strength or in the presence of Ca(2+). PMID: 26001786
    25. Clinical phenotypes of Usher syndrome associated with MYO7A mutations. PMID: 24831256
    26. The MYO7A gene is responsible for two distinct diseases and gives evidence that the p.P1887L mutation in a homozygous state may be responsible for nonsyndromic hearing loss. PMID: 24194196
    27. new variants in genes such as MYO7A is associated with nonsyndromic deafness and vestibular dysfunction PMID: 24275721
    28. Data indicate that that CIB2 localizes to stereocilia and interacts with the USH proteins myosin VIIa and whirlin, suggesting CIB2 is a Ca2+-buffering protein essential for calcium homeostasis in the mechanosensory stereocilia of inner ear hair cells. PMID: 24022220
    29. Data show that AAV-mediated hMYO7A gene transfer to the mice sh1(-/-) retina is effective. PMID: 23991031
    30. MYO7A-related ocular disease is variable. Central vision typically remains preserved at least until the third decade of life, with 50% of affected individuals reaching legal blindness by 40 years of age. PMID: 24199935
    31. Hearing loss was found to co-segregate with locus-specific STR markers for MYO7A in 32 Pakistani families. PMID: 23770805
    32. Our results show that MYO7A therapy with AAV2 or AAV5 single vectors is efficacious; however, the dual AAV2 approach proved to be less effective. PMID: 23344065
    33. Possible digenism could not be excluded in two families segregating genomic variations in both MYO7A and USH2A, and two families with CLRN1 and USH2A. PMID: 22681893
    34. Two novel mutations, c.3742G>A (p.E1248K) and c.6051+1G>A (donor splice site mutation in intron 44), of MYO7A in a Chinese non-consanguineous family with Usher syndrome type 1, were identified. PMID: 23559863
    35. A new missense mutation (Arg668His) in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11). PMID: 23383098
    36. in a set of consanguineous patient families with Leber congenital amaurosis study identified five putative disease-causing mutations, including four novel alleles, in six families; These five mutations are located in four genes, ALMS1, IQCB1, CNGA3, and MYO7A PMID: 21901789
    37. A previously reported mutation (c.52C>T; p.Q18X) in the myosin VIIA (MYO7A) gene was found in the homozygous state in the affected siblings. PMID: 22690115
    38. Pathogenic mutations in MYO7A, USH1C, and USH1G have been found in four consanguineous Israeli Arab families with Usher syndrome type 1. PMID: 22219650
    39. The results suggested that in a cellular environment, compartment-specific fluctuations in free Mg2+ ions can mediate the conditional switching of myosin-7a between cargo moving and tension bearing modes. PMID: 21687988
    40. The s speculate that null MYO7A alleles could be associated with milder dysfunction and fewer photoreceptor structural losses at ages when other genotypes show more severe phenotypes. PMID: 21873662
    41. Significant linkage in DFNA11 markers was found in hereditary deafness. PMID: 17702415
    42. a single nucleotide polymorphism (SNP) T/C at position -4128 in the wild-type MYO7A promoter allele that sorts with the degree of hearing loss severity in the pedigree PMID: 21378158
    43. association of myosin VIIA monomers with membrane via the MyRip/Rab27a complex facilitates the cargo-transporting activity of myosin VIIA, which is achieved by cluster formation on the membrane PMID: 21482763
    44. Novel missense mutations in MYO7A underlying postlingual high- or low-frequency non-syndromic hearing impairment in two large families. PMID: 21150918
    45. Five mutations (three in MYO7A and two in CDH23) were identified in four of five unrelated patients with Usher syndrome type 1. PMID: 20844544
    46. The molecular determinant of a mild form of retinopathy in association with a subtle splicing modulation of MYO7A mRNA, was investigated. PMID: 21031134
    47. Variable hearing impairment in a DFNB2 family with a novel MYO7A missense mutation PMID: 20132242
    48. the shaping of the hair bundle relies on a functional unit composed of myosin VIIa, harmonin b and cadherin 23 that is essential to ensure the cohesion of the stereocilia PMID: 12485990
    49. Expressed in retina. Domain structure. Carrier proteins determine cellular function. PMID: 15180257
    50. A new heterozygous missense mutation (c.2557C>T; p.R853C) was found in autosomal dominant non-syndromic hearing loss that changes an invariant residue of the fifth IQ motif, a putative calmodulin (CaM) binding domain. PMID: 15300860

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  • 相关疾病：
    Usher syndrome 1B (USH1B); Deafness, autosomal recessive, 2 (DFNB2); Deafness, autosomal dominant, 11 (DFNA11)
  • 亚细胞定位：
    Cytoplasm. Cytoplasm, cell cortex. Cytoplasm, cytoskeleton. Cell junction, synapse.
  • 蛋白家族：
    TRAFAC class myosin-kinesin ATPase superfamily, Myosin family
  • 组织特异性：
    Expressed in the pigment epithelium and the photoreceptor cells of the retina. Also found in kidney, liver, testis, cochlea, lymphocytes. Not expressed in brain.
  • 数据库链接：

    HGNC: 7606

    OMIM: 276900

    KEGG: hsa:4647

    STRING: 9606.ENSP00000386331

    UniGene: Hs.370421