Recombinant Human BBS13, GST-tagged

• Cat.No.: BBS13-10152H
• Product Overview: Recombinant Human BBS13 protein, fused to GST-tag, was expressed in E.coli and purified by GSH-sepharose.

Specification

• Species: Human
• Source: E.coli
• Tag: GST
• Protein Length: 144-464a.a.
• Description: The protein encoded by this gene localizes to the basal body and is required for formation of the primary cilium in ciliated epithelial cells. Mutations in this gene result in Meckel syndrome type 1 and in Bardet-Biedl syndrome type 13. Multiple transcript variants encoding different isoforms have been found for this gene.
• Storage: The protein is stored in PBS buffer at -20℃. Avoid repeated freezing and thawing cycles.
• Storage Buffer: 1M PBS (58mM Na2HPO4,17mM NaH2PO4, 68mM NaCl, pH8. ) added with 100mM GSH and 1% Triton X-100,15%glycerol.

Gene Information

• Gene Name: MKS1 Meckel syndrome,type 1 [ Homo sapiens ]
• Official Symbol: MKS1
• Synonyms: MKS1;Meckel syndrome,type 1;MES;MKS;BBS13;POC12;Meckel syndrome type 1 protein;FABB proteome-like protein;POC12 centriolar protein homolog;OTTHUMP00000165109;OTTHUMP00000165110;FLJ20345;OTTHUMP00000165111;FABB proteome-like protein;POC12 centriolar protei
• Gene ID: 54903
• mRNA Refseq: NM_001165927
• Protein Refseq: NP_001159399
• MIM: 609883
• UniProt ID: Q9NXB0
• Chromosome Location: 17q22
• Function: protein binding