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Recombinant Human BBS4 Protein, GST-tagged

Cat.No. : BBS4-108H
Product Overview : Human BBS4 full-length ORF ( AAH27624, 1 a.a. - 519 a.a.) recombinant protein with GST-tag at N-terminal.
  • Specification
  • Gene Information
  • Related Products
Description : This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation and mental retardation. The proteins encoded by BBS gene family members are structurally diverse. The similar phenotypes exhibited by mutations in BBS gene family members are likely due to the proteins shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene has sequence similarity to O-linked N-acetylglucosamine (O-GlcNAc) transferases in plants and archaebacteria and in human forms a multi-protein "BBSome" complex with six other BBS proteins. Alternative splice variants have been described but their predicted protein products have not been experimentally verified.
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 : 82.83 kDa
AA Sequence : MAEERVATRTQFPVSTESQKPRQKK APEFPILEKQNWLIHLHYIRKDYEA CKAVIKEQLQETQGLCEYAIYVQAL IFRLEGNIQESLELFQTCAVLSPQS ADNLKQVARSLFLLGKHKAAIEVYN EAAKLNQKDWEISHNLGVCYIYLKQ FNKAQDQLHNALNLNRHDLTYIMLG KIHLLEGDLDKAIEVYKKAVEFSPE NTELLTTLGLLYLQLGIYQKAFEHL GNALTYDPTNYKAILAAGSMMQTHG DFDVALTKYRVVACAVPESPPLWNN IGMCFFGKKKYVAAISCLKRANYLA PFDWKILYNLGLVHLTMQQYASAFH FLSAAINFQPKMGELYMLLAVALTN LEDTENAKRAYAEAVHLDKCNPLVN LNYAVLLYNQGEKKNALVQYQEMER KVSLLKDNSSLEFDSEMVEMAQKLG AALQVGEALVWTKPVKDPKSKHQTT STSKPASFQQPLGSNQALGQAMSSA AAYRTLPSGAGGTSQFTKPPSLPLE PEPAVESSPTETSEQIREK
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 Name : BBS4 Bardet-Biedl syndrome 4 [ Homo sapiens ]
Official Symbol : BBS4
Synonyms : BBS4; Bardet-Biedl syndrome 4; Bardet-Biedl syndrome 4 protein;
Gene ID : 585
mRNA Refseq : NM_001252678
Protein Refseq : NP_001239607
MIM : 600374
UniProt ID : Q96RK4

For Research Use Only. Not intended for any clinical use. No products from Creative BioMart may be resold, modified for resale or used to manufacture commercial products without prior written approval from Creative BioMart.

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