Recombinant Full Length Human BBS5 Protein, GST-tagged

• Cat.No.: BBS5-1589HF
• Product Overview: Human BBS5 full-length ORF ( NP_689597.1, 1 a.a. - 341 a.a.) recombinant protein with GST-tag at N-terminal.

Specification

• 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 required for the formation of cilia. Alternate transcriptional splice variants have been observed but have not been fully characterized.
• Source: In Vitro Cell Free System
• Species: Human
• Tag: GST
• Form: 50 mM Tris-HCl, 10 mM reduced Glutathione, pH=8.0 in the elution buffer.
• Molecular Mass: 65.2 kDa
• Protein Length: 341 amino acids
• AA Sequence: MSVLDALWED RDVRFDLSAQ QMKTRPGEVL IDCLDSIEDT KGNNGDRGRL LVTNLRILWH SLALSRVNVS VGYNCILNIT TRTANSKLRG QTEALYILTK CNSTRFEFIF TNLVPGSPRL FTSVMAVHRA YETSKMYRDF KLRSALIQNK QLRLLPQEHV YDKINGVWNL SSDQGNLGTF FITNVRIVWH ANMNDSFNVS IPYLQIRSIK IRDSKFGLAL VIESSQQSGG YVLGFKIDPV EKLQESVKEI NSLHKVYSAS PIFGVDYEME EKPQPLEALT VEQIQDDVEI DSDGHTDAFV AYFADGNKQQ DREPVFSEEL GLAIEKLKDG FTLQGLWEVM S
• Storage: Store at -80 centigrade. Aliquot to avoid repeated freezing and thawing.
• Storage Buffer: 50 mM Tris-HCl, 10 mM reduced Glutathione, pH=8.0 in the elution buffer.

Gene Information

• Gene Name: BBS5 Bardet-Biedl syndrome 5 [ Homo sapiens ]
• Official Symbol: BBS5
• Synonyms: BBS5; Bardet-Biedl syndrome 5; Bardet-Biedl syndrome 5 protein; DKFZp762I194
• Gene ID: 129880
• mRNA Refseq: NM_152384
• Protein Refseq: NP_689597
• MIM: 603650
• UniProt ID: Q8N3I7