TTC8 Antibody (monoclonal) (M03)
Mouse monoclonal antibody raised against a partial recombinant TTC8.
- SPECIFICATION
- CITATIONS
- PROTOCOLS
- BACKGROUND
Application
| WB |
---|---|
Primary Accession | Q8TAM2 |
Other Accession | NM_144596 |
Reactivity | Human, Mouse, Rat |
Host | mouse |
Clonality | Monoclonal |
Isotype | IgG2a Kappa |
Clone Names | 7E3 |
Calculated MW | 61534 Da |
Gene ID | 123016 |
---|---|
Other Names | Tetratricopeptide repeat protein 8, TPR repeat protein 8, Bardet-Biedl syndrome 8 protein, TTC8, BBS8 |
Target/Specificity | TTC8 (NP_653197, 416 a.a. ~ 514 a.a) partial recombinant protein with GST tag. MW of the GST tag alone is 26 KDa. |
Dilution | WB~~1:500~1000 |
Format | Clear, colorless solution in phosphate buffered saline, pH 7.2 . |
Storage | Store at -20°C or lower. Aliquot to avoid repeated freezing and thawing. |
Precautions | TTC8 Antibody (monoclonal) (M03) is for research use only and not for use in diagnostic or therapeutic procedures. |
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Background
This gene encodes a protein that has been directly linked to Bardet-Biedl syndrome. The primary features of this syndrome include retinal dystrophy, obesity, polydactyly, renal abnormalities and learning disabilities. Experimentation in non-human eukaryotes suggests that this gene is expressed in ciliated cells and that it is involved in the formation of cilia. Alternate transcriptional splice variants have been characterized.
References
A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa. Riazuddin SA, et al. Am J Hum Genet, 2010 May 14. PMID 20451172.BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population. Bin J, et al. Hum Mutat, 2009 Jul. PMID 19402160.Analysis of 30 genes (355 SNPS) related to energy homeostasis for association with adiposity in European-American and Yup'ik Eskimo populations. Chung WK, et al. Hum Hered, 2009. PMID 19077438.A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis. Nachury MV, et al. Cell, 2007 Jun 15. PMID 17574030.The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Gerhard DS, et al. Genome Res, 2004 Oct. PMID 15489334.
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