Recombinant Human BBS5 Protein, GST-tagged

• Cat.No.: BBS5-109H
• 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: Wheat Germ
• Species: Human
• Tag: GST
• Form: 50 mM Tris-HCI, 10 mM reduced Glutathione, pH=8.0 in the elution buffer.
• Molecular Mass: 65.2 kDa
• AA Sequence: MSVLDALWEDRDVRFDLSAQQMKTR PGEVLIDCLDSIEDTKGNNGDRGRL LVTNLRILWHSLALSRVNVSVGYNC ILNITTRTANSKLRGQTEALYILTK CNSTRFEFIFTNLVPGSPRLFTSVM AVHRAYETSKMYRDFKLRSALIQNK QLRLLPQEHVYDKINGVWNLSSDQG NLGTFFITNVRIVWHANMNDSFNVS IPYLQIRSIKIRDSKFGLALVIESS QQSGGYVLGFKIDPVEKLQESVKEI NSLHKVYSASPIFGVDYEMEEKPQP LEALTVEQIQDDVEIDSDGHTDAFV AYFADGNKQQDREPVFSEELGLAIE KLKDGFTLQGLWEVMS
• Notes: Best use within three months from the date of receipt of this protein.
• Storage: Store at -80 centigrade. Aliquot to avoid repeated freezing and thawing.
• Storage Buffer: 50 mM Tris-HCI, 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