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TMC1 Antibody

  • 货号：
    CSB-PA023633GA01HU
  • 规格：
    ￥3,900
  • 其他：

产品详情

  • Uniprot No.：
    Q8TDI8
  • 基因名：
    TMC1
  • 别名：
    TMC1; Transmembrane channel-like protein 1; Transmembrane cochlear-expressed protein 1
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse,Rat
  • 免疫原：
    Human TMC1
  • 免疫原种属：
    Homo sapiens (Human)
  • 抗体亚型：
    IgG
  • 纯化方式：
    Antigen Affinity purified
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    PBS with 0.02% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA,WB
  • Protocols：
  • 储存条件：
    Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
  • 货期：
    Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.

产品评价

靶点详情

  • 功能：
    Probable ion channel required for the normal function of cochlear hair cells.
  • 基因功能参考文献：
    1. Novel TMC1 mutation 773G>A was identified in a family with nonsyndromic hearing loss. PMID: 29692870
    2. the whole exome sequencing (WES) in this family revealed two homozygous variants in EVC2 (c.30dupC; p.Thr11Hisfs*45) and TMC1 (c.1696-1G>A) genes. In family B, WES revealed novel compound heterozygous variants (p.Ser307Pro, c.2894+3A>G) in the EVC gene. PMID: 29321360
    3. Pathogenic variations in the TMC1 gene (encoding the transmembrane channel-like protein 1) are found in more than a third of hearing-impaired Jewish patients of Moroccan ancestry. PMID: 28821934
    4. the identification of a previously identified c.100C>T mutation, and a novel homozygous mutation, c.1283C>A in TMC1, in this study supports TMC1 gene as one of the second-tier hearing loss genes, after GJB2 in India. Testing for TMC1 may be considered in all GJB2-negative nonsyndromic hearing loss cases PMID: 28862181
    5. two novel mutations in the WHRN and TMC1 genes are responsible for founder effects of hereditary hemochromatosis, Wilson s disease, the long QT syndrome and autosomal recessive deafness in a Swedish pedigree PMID: 29270100
    6. But the great majority of evidence is consistent with these TMCs as pore-forming subunits of the long-sought hair-cell transduction channel. [review] PMID: 27798174
    7. a novel TMC1 mutation in exon 20, c.1979C>T, p.P660L, which segregated with prelingual autosomal recessive sensorineural hearing loss, was found. PMID: 26822030
    8. there is hypo-functional TMC1 mechanotransduction channel activity and other even less damaging variants of TMC1 may be associated with more common mild-to-severe sensorineural hearing loss. PMID: 26879195
    9. TMC1 has been identified as the causative gene in a six-generation Chinese family with autosomal dominant hearing loss. PMID: 26079994
    10. The first mutation in the TMC1 gene in the Moroccan population causing non-syndromic hearing loss. PMID: 26226225
    11. The novel compound heterozygous mutant alleles of TMC1 identified in this study were responsible for the autosomal recessive non-syndromic hearing loss in this Tibetan Chinese family. PMID: 25458163
    12. one heterozygous, non-synonymous variant was detected, with the SNP causing an amino acid substitution in TMC1 in a Polish family with hearing impairment PMID: 25560804
    13. Co-segregation of c.2030T>C mutation with hearing loss in an Iranian family and absence of this mutation in 100 Iranian controls confirms the pathogenicity of this mutation. PMID: 25423259
    14. TMC1 mutations disrupt hair cell mechanoelectrical transduction and are responsible for DFNA36 and DFNB7/B11. [Review Article] PMID: 24933710
    15. TMC1 is expressed in the hair cells in inner ear. PMID: 24827932
    16. Description of the spectrum of mutations in TMC1 in 374 families with autosomal recessive, non-syndromic hearing loss from India. PMID: 24416283
    17. hearing loss in this family was caused by novel compound heterozygous mutations in TMC1 PMID: 23690975
    18. DNA sequencing of all coding and non-coding exons and intron boundaries of the TMC1 gene identified c.-258A>C mutation in non-coding exon 3 only in individuals from two ethnically related Iranian with hearing loss. PMID: 23523375
    19. A single founder mutation, c.100C>T (p.Arg34X) that dominates the TMC1 mutation spectrum is not a significant cause of deafness in British Aasians. PMID: 22288896
    20. A novel homozygous A-to-G change in the TMC1 gene was detected near the splice donor site of intron 19 (c.1763+3A-->G) segregating with the hearing loss in a Dutch family PMID: 21252500
    21. DFNB7/11 is a common form of genetic hearing loss in Iran, because this population is the source of 6 of the 29 TMC1 mutations reported worldwide PMID: 21250555
    22. Our study shows that the p.R34X mutation in TMC1 in North African and Asian individuals arose from at least two different founders. PMID: 20373850
    23. A novel dominant mutation, p.G417R, and a novel recessive mutation, p.N50KfsX26, in TMC1 in a large Iranian DFNA36 family (Family L1754 ) and a consanguineous Iranian DFNB7/11 family (Family L787), respectively, were identified. PMID: 20447146
    24. The p.D572N mutation of TMC1 co-segregating with hearing loss in a North American family, was studied. PMID: 19180119
    25. role of mutations causing dominant and recessive deafness PMID: 11850618
    26. TMC1 mutations account for at least 6% (4/65) of ARNSHL in GJB2-negative Turkish families from the northeast and east of Turkey. PMID: 16287143
    27. 9 different TMC1 mutations account for deafness in 19 (3.4%) of the 557 Pakistani families. A single mutation, p.R34X, causes deafness in 10 (1.8%) of the families. PMID: 17877751
    28. This study confirms that mutations in the TMC1 gene may be a common cause for autosomal recessive nonsyndromic HI. PMID: 18259073
    29. linkage to DFNA36 and DFNB7/11 in 1 family with dominant and 10 families with recessive non-syndromic sensorineural hearing loss. In addition, mutation analysis of TMC1 PMID: 18616530
    30. Mutaions in TMC1 contribute significantly to nonsyndromic autosomal recessive sensorineural hearing loss. PMID: 19187973

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  • 相关疾病：
    Deafness, autosomal dominant, 36 (DFNA36); Deafness, autosomal recessive, 7 (DFNB7)
  • 亚细胞定位：
    Cell membrane; Multi-pass membrane protein.
  • 蛋白家族：
    TMC family
  • 组织特异性：
    Detected in fetal cochlea, and at low levels in placenta and testis.
  • 数据库链接：

    HGNC: 16513

    OMIM: 600974

    KEGG: hsa:117531

    STRING: 9606.ENSP00000297784

    UniGene: Hs.670211