Tetratricopeptide repeat protein 8 (TTC8) Recombinant Protein | TTC8 recombinant protein

Recombinant Human Tetratricopeptide repeat protein 8 (TTC8)

Cat. Num. AAA1320215

• Gene Names: TTC8; BBS8; RP51
• Purity: Greater or equal to 85% purity as determined by SDS-PAGE.
• Synonyms: Tetratricopeptide repeat protein 8 (TTC8); Recombinant Human Tetratricopeptide repeat protein 8 (TTC8); TTC8 recombinant protein

• Host: E Coli or Yeast or Baculovirus or Mammalian Cell
• Purity/Purification: Greater or equal to 85% purity as determined by SDS-PAGE.
• Form/Format: Lyophilized or liquid (Format to be determined during the manufacturing process)
• Sequence Positions: 1-541, Full length protein
• Sequence: MSSEMEPLLLAWSYFRRRKFQLCADLCTQMLEKSPYDQEPDPELPVHQAAWILKARALTEMVYIDEIDVDQEGIAEMMLDENAIAQVPRPGTSLKLPGTNQTGGPSQAVRPITQAGRPITGFLRPSTQSGRPGTMEQAIRTPRTAYTARPITSSSGRFVRLGTASMLTSPDGPFINLSRLNLTKYSQKPKLAKALFEYIFHHENDVKTIHLEDVVLHLGIYPFLLRNKNHIEKNALDLAALSTEHSQYKDWWWKVQIGKCYYRLGMYREAEKQFKSALKQQEMVDTFLYLAKVYVSLDQPVTALNLFKQGLDKFPGEVTLLCGIARIYEEMNNMSSAAEYYKEVLKQDNTHVEAIACIGSNHFYSDQPEIALRFYRRLLQMGIYNGQLFNNLGLCCFYAQQYDMTLTSFERALSLAENEEEAADVWYNLGHVAVGIGDTNLAHQCFRLALVNNNNHAEAYNNLAVLEMRKGHVEQARALLQTASSLAPHMYEPHFNFATISDKIGDLQRSYVAAQKSEAAFPDHVDTQHLIKQLRQHFAML
• Sequence Length: 541

• Species: Human
• Preparation and Storage: Store at -20 degrees C. For long-term storage, store at -20 degrees C or -80 degrees C. Store working aliquots at 4 degrees C for up to one week. Repeated freezing and thawing is not recommended.

Related Product Information for TTC8 recombinant protein

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.

NCBI and Uniprot Product Information

• NCBI GI #: 571026683
• NCBI GeneID: 123016
• NCBI Accession #: NP_001275710.1
• NCBI GenBank Nucleotide #: NM_001288781.1
• UniProt Accession #: Q8TAM2; Q67B97; Q86SY0; Q86TV9; Q86U26; Q8NDH9; Q96DG8; A6NFG2; B3KWA5
• Molecular Weight: 21,712 Da
• NCBI Official Full Name: tetratricopeptide repeat protein 8 isoform D
• NCBI Official Synonym Full Names: tetratricopeptide repeat domain 8
• NCBI Official Symbol: TTC8
• NCBI Official Synonym Symbols: BBS8; RP51
• NCBI Protein Information: tetratricopeptide repeat protein 8
• UniProt Protein Name: Tetratricopeptide repeat protein 8
• UniProt Gene Name: TTC8
• UniProt Synonym Gene Names: BBS8; TPR repeat protein 8

NCBI Description

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]

Uniprot Description

The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8 and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base of the ciliary membrane. The BBSome complex, together with the LTZL1, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation. Required for proper BBSome complex assembly and its ciliary localization.