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Anti-BBS8/TTC8 Antibody Picoband® Fluoro550 Conjugated

Product Specifications

Background

Tetratricopeptide repeat domain 8 (TTC8) also known as Bardet–Biedl syndrome 8 is a protein that in humans is encoded by the TTC8 gene.This gene encodes a protein that has been ly 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. A mutation in this gene has also been implicated in nonsyndromic retinitis pigmentosa. Alternative splicing results in multiple transcript variants.

Synonyms

Inorganic pyrophosphatase; Pyrophosphate phospho-hydrolase; Ppase; PPA1; IOPPP; PP

Gene Name

TTC8

Gene ID

123016

UniProt

Q8TAM2

Host

Rabbit

Reactivity

Human, Mouse, Rat

Cross Reactivity

No cross-reactivity with other proteins.

Immunogen

E.coli-derived human BBS8/TTC8 recombinant protein (Position: E271-Q533) .

Clonality

Polyclonal

Tissue Specificity

Expressed ubiquitously.

Applications

Flow Cytometry

Field of Research

Cancer, Cofactors, Vitamins/Minerals, Metabolism, Pathways and Processes, Signal Transduction, Vitamins/Minerals

Purification

Immunogen affinity purified.

Form

Liquid

Function

Inhibits both auto-ubiquitination of PARK2 and ubiquitination of target proteins by PARK2 (By similarity) . May function as a nucleotide exchange factor for HSP/HSP70, promoting ADP release, and activating Hsp70-mediated refolding. .

References & Citations

1. Ansley, S. J., Badano, J. L., Blacque, O. E., Hill, J., Hoskins, B. E., Leitch, C. C., Kim, J. C., Ross, A. J., Eichers, E. R., Teslovich, T. M., Mah, A. K., Johnsen, R. C., Cavender, J. C., Lewis, R. A., Leroux, M. R., Beales, P. L., Katsanis, N. Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome. Nature 425: 628-633, 2003. 2. Goyal, S., Jager, M., Robinson, P. N., Vanita, V. Confirmation of TTC8 as a disease gene for nonsyndromic autosomal recessive retinitis pigmentosa (RP51) . Clin. Genet. 89: 454-460, 2016. 3. Jin, H., White, S. R., Shida, T., Schulz, S., Aguiar, M., Gygi, S. P., Bazan, J. F., Nachury, M. V. The conserved Bardet-Biedl syndrome proteins assemble a coat that traffics membrane proteins to cilia. Cell 141: 1208-1219, 2010.

Storage Conditions

At -20 ̊C for one year from date of receipt. Avoid repeated freezing and thawing. Protect from light.

Calculated Molecular Weight

51200 MW

Applications Notes

6

Gene Name Synonym

Pyrophosphatase (inorganic) 1

Subcellular Location

Cytoplasm.

Protein Name

BAG family molecular chaperone regulator 5

Isotype

Rabbit IgG

Contents

Each vial contains 50% glycerol, 0.9% NaCl, 0.2% Na2HPO4, 0.02% NaN3.

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