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TTC8 Full-Length MS Protein Standard

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Product Description


NameTTC8 Full-Length MS Protein Standard
Cat#CPFL310638
Protein Nametetratricopeptide repeat domain 8
SymbolTTC8
SynonymsBBS8; RP51
AccessionNM_198309
Cytogenetic14q31.3
Amino Acid Labeled[U- 13C6, 15N4]-L-Arg and [U- 13C6, 15N2]-L-Lys
DescriptionTTC8 Full-Length MS Protein Standard (NP_938051), Labeled with [U- 13C6, 15N4]-L-Arginine and [U- 13C6, 15N2]-L-Lysine, was produced in human 293 cells (HEK293) with fully chemically defined cell culture medium to obtain incorporation efficiency at Creative-Proteomics. 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. A mutation in this gene has also been implicated in nonsyndromic retinitis pigmentosa. Alternative splicing results in multiple transcript variants.

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