TTC8 (NM_198309) Human Recombinant Protein

• 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. A mutation in this gene has also been implicated in nonsyndromic retinitis pigmentosa. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

• Synonyms:

  BBS8; RP51

• Gene ID:

  123016

• UniProt:

  Q8TAM2, A0A0C4DGY3, Q86U25, A0A0C4DFT4

• Accession Number mRNA:

  NM_198309

• Chromosomal Location:

  14q31.3

• Expression System:

  HEK293T

• Tag:

  C-Myc/DDK

• Concentration:

  >50 ug/mL as determined by microplate BCA method

• Purity:

  > 80% as determined by SDS-PAGE and Coomassie blue staining

• Form:

  Liquid

• Buffer:

  25 mM Tris.HCl, pH 7.3, 100 mM glycine, 10% glycerol

• Molecular Weight:

  57.1 kDa

• Storage Conditions:

  Stable for 1 year at -20°C or below from date of shipment. For maximum recovery of product, centrifuge the original vial after thawing and opening the cap. For long-term storage, aliquot and store at -20°C or below. Avoid repeated freeze-thaw cycles.

• Symbol:

  TTC8

• Species:

  Human

• Protein ID:

  NP_938051

• Overview:

  Recombinant protein of human tetratricopeptide repeat domain 8 (TTC8), transcript variant 2

• Gene ID URL:

  https://www.ncbi.nlm.nih.gov/gene/123016

• Uniprot URL:

  https://www.uniprot.org/uniprot/Q8TAM2

• Accession Number mRNA URL:

  https://www.ncbi.nlm.nih.gov/nuccore/NM_198309

• Protein ID Link:

  https://www.ncbi.nlm.nih.gov/nuccore/NP_938051