Transmembrane Channel-Like Gene Family 1 (TMC1) (4th Cytoplasmic Loop) antibody

Details for Product No. ABIN351009
Request Want additional data for this product?

The Independent Validation Initiative strives to provide you with high quality data. Find out more

Antigen
Synonyms dn, Bth, CWEA1, Beethoven, 4933416G09Rik
Epitope
4th Cytoplasmic Loop
(3)
Reactivity
Human, Rat (Rattus), Mouse (Murine)
(2), (1), (1), (1)
Host
Rabbit
(3)
Clonality
Polyclonal
Application
Immunohistochemistry (IHC), Western Blotting (WB)
(3), (3)
Pubmed 7 references available
Catalog no. ABIN351009
Quantity 100 µL
Price
454.67 $   Plus shipping costs $45.00
Options
Shipping to United States (Change)
Availability Will be delivered in 7 to 8 Business Days

Order hotline:

  • +1 404 474 4654
  • +1 888 205 9894 (TF)
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 c
Specificity Specific for SCN8A.
Purification whole serum
Alternative Name TMC1 (Beethoven/deafness protein, CWEA1, Bth, dn)
Background 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.
UniProt Q63541
Research Area Neurology
Application Notes 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.
Restrictions For Research Use only
Format Liquid
Reconstitution Reconstitute in 100 µL of sterile water. Centrifuge to remove any insoluble material.
Handling Advice Avoid freeze and thaw cycles.
Storage -20 °C
Storage Comment Maintain the reconstituted antibodies frozen at -20 °C for long term storage and refrigerated at 2-8 °C for a shorter term.
Expiry Date 12 months
General 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).

Hosts (3)
Reactivities (2), (1), (1), (1)
Applications (3), (3)
Epitopes (3)
Request Want additional data for this product?

The Independent Validation Initiative strives to provide you with high quality data. Find out more

Order hotline:

  • +1 404 474 4654
  • +1 888 205 9894 (TF)
Validation Images
back to top