TMC1 Antibody

Code CSB-PA023633GA01HU
Size $600
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Product Details

Uniprot No.
Target Names
TMC1
Alternative Names
TMC1; Transmembrane channel-like protein 1; Transmembrane cochlear-expressed protein 1
Raised in
Rabbit
Species Reactivity
Human,Mouse,Rat
Immunogen
Human TMC1
Immunogen Species
Homo sapiens (Human)
Isotype
IgG
Purification Method
Antigen Affinity purified
Concentration
It differs from different batches. Please contact us to confirm it.
Buffer
PBS with 0.02% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
Tested Applications
ELISA,WB
Troubleshooting and FAQs
Storage
Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
Lead Time
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.

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Target Background

Function
Probable ion channel required for the normal function of cochlear hair cells.
Gene References into Functions
  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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Involvement in disease
Deafness, autosomal dominant, 36 (DFNA36); Deafness, autosomal recessive, 7 (DFNB7)
Subcellular Location
Cell membrane; Multi-pass membrane protein.
Protein Families
TMC family
Tissue Specificity
Detected in fetal cochlea, and at low levels in placenta and testis.
Database Links

HGNC: 16513

OMIM: 600974

KEGG: hsa:117531

STRING: 9606.ENSP00000297784

UniGene: Hs.670211

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