Recombinant Full Length Human BBS1 Protein

• Cat.No.: BBS1-1583HF
• Product Overview: Human BBS1 full-length ORF ( AAH47642.1, 1 a.a. - 463 a.a.) recombinant protein with GST-tag at N-terminal.

Specification

• Description: Mutations in this gene have been observed in patients with the major form (type 1) of Bardet-Biedl syndrome. The encoded protein may play a role in eye, limb, cardiac and reproductive system development.
• 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: 77.8 kDa
• Protein length: 1-593 a.a.
• AA Sequence: MSPGPQLWHL LQALVSMCIR ISDPTSSSAY PNCLQILWNK TFGTRPKRET AEEPLSIQSL RFLQLELSEM EAFVNQHKSN SIKRQTVITT MTTLKKNLAD EDAVSCLVLG TENKELLVLD PEAFTILAKM SLPSVPVFLE VSGQFDVEFR LAAACRNGNI YILRRDSKHP KYCIELSAQP VGLIRVHKVL VVGSTQDSLH GFTHKGKKLW TVQMPAAILT MNLLEQHSRG LQAVMAGLAN GEVRIYRDKA LLNVIHTPDA VTSLCFGRYG REDNTLIMTT RGGGLIIKIL KRTAMFVEGG SEVGPPPAQA MKLNVPRKTR LYVDQTLRER EAGTAMHRAF QTDLYLLRLR AARAYLQALE SSLSPLSTTA REPLKLHAVV QGLGPTFKLT LHLQNTSTTR PVLGLLVCFL YNEALYSLPR AFFKVPLLVP GLNYPLETFV ESLSNKGISD IIKVGPALVP RGR
• 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: BBS1 Bardet-Biedl syndrome 1 [ Homo sapiens ]
• Official Symbol: BBS1
• Synonyms: BBS1; Bardet-Biedl syndrome 1; Bardet-Biedl syndrome 1 protein; FLJ23590; BBS2-like protein 2; BBS2L2; MGC51114; MGC126183; MGC126184
• Gene ID: 582
• mRNA Refseq: NM_024649
• Protein Refseq: NP_078925
• MIM: 209901
• UniProt ID: Q8NFJ9