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TMC1 (Beethoven/deafness protein, CWEA1, Bth, dn) (4th Cytoplasmic Loop) antibody
4th Cytoplasmic Loop
Immunohistochemistry (IHC), Western Blotting (WB)
|7 references available|
|Price||454.67 $ Plus shipping costs $45.00|
|Availability||Will be delivered in 7 to 8 Business Days|
|Immunogen||A synthetic peptide from the 4th cytoplasmic loop of human transmembrane channel-like protein 1 (TMC1, Beethoven/deafness protein, CWEA1, Bth, dn) conjugated to an immunogenic carrier protein was used as the immunogen. The antigen is homologous with the corresponding sequence in mouse.|
|Description||FUNCTION: Required for the normal function of cochlear hair cells. SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein. TISSUE SPECIFICITY: Detected in cochlear inner and outer hair cells and in neurosensory epithelia of the vestibular end organs. Also expressed in cortex, cerebellum, eye, colon, ovary and testis. DEVELOPMENTAL STAGE: Expressed at low, constant levels in temporal bone from embryonic day 14 to day 1 after birth. Increases by 8 to 16-fold at day 5, 10 and 20 and continues to be expressed up to day 90. DISEASE: Defects in Tmc1 are the cause of the dominant deaf mutant Beethoven (BTH). Heterozygotes show progressive hair-cell degeneration from day 20 onwards, leading to severe depletion of inner hair cells and scattered loss of outer hair cells, and progressive loss of the Preyer reflex from around day 30. Homozygotes show almost complete degeneration of inner hair cells, and little or no Preyer reflex at any age. DISEASE: Defects in Tmc1 are the cause of recessive deaf mutant dn. The dn mutant shows profound deafness with degeneration of the organ of Corti, stria vascularis, and occasionally the saccular macula, starting at about 10 days after birth. Also known as:transmembrane channel-like protein 1,transmembrane cochlear-expressed protein 1, Beethoven protein, Deafness protein, CWEA1, Bth, dn, 4933416G09Rik.|
|Specificity||Appears to be specific for TMC1.|
|Application Notes||IHC, WB. A dilution of 1 : 300 to 1 : 2000 is recommended. The optimal dilution should be determined by the end user. Not yet tested in other applications.|
|Storage||Maintain the lyophilised/reconstituted antibodies frozen at -20°C for long term storage and refrigerated at 2-8°C for a shorter term. When reconstituting, glycerol (1:1) may be added for an additional stability. Avoid freeze and thaw cycles.|
|Restrictions||For Research Use only|
Kurima, Peters, Yang et al.: "Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function." in: Nature genetics, Vol. 30, Issue 3, pp. 277-84, 2002 (PubMed).
Vreugde, Erven, Kros et al.: "Beethoven, a mouse model for dominant, progressive hearing loss DFNA36." in: Nature genetics, Vol. 30, Issue 3, pp. 257-8, 2002 (PubMed).
Keresztes, Mutai, Heller: "TMC and EVER genes belong to a larger novel family, the TMC gene family encoding transmembrane proteins." in: BMC genomics, Vol. 4, Issue 1, pp. 24, 2003 (PubMed).
Kurima, Yang, Sorber et al.: "Characterization of the transmembrane channel-like (TMC) gene family: functional clues from hearing loss and epidermodysplasia verruciformis." in: Genomics, Vol. 82, Issue 3, pp. 300-8, 2003 (PubMed).
Ota, Suzuki, Nishikawa et al.: "Complete sequencing and characterization of 21,243 full-length human cDNAs." in: Nature genetics, Vol. 36, Issue 1, pp. 40-5, 2003 (PubMed).
Humphray, Oliver, Hunt et al.: "DNA sequence and analysis of human chromosome 9." in: Nature, Vol. 429, Issue 6990, pp. 369-74, 2004 (PubMed).
Carninci, Kasukawa, Katayama et al.: "The transcriptional landscape of the mammalian genome." in: Science (New York, N.Y.), Vol. 309, Issue 5740, pp. 1559-63, 2005 (PubMed).