Recombinant Human MKS1 Protein, GST-tagged

• Cat.No.: MKS1-5378H
• Product Overview: Human MKS1 full-length ORF ( AAH10061.1, 1 a.a. - 377 a.a.) recombinant protein with GST-tag at N-terminal.

Specification

• Species: Human
• Source: Wheat Germ
• Tag: GST
• 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. [provided by RefSeq
• Molecular Mass: 69.4 kDa
• AA Sequence: MTTAASEVPSFLVERMANVRRRRQDRRGMEGGILKSRIVTWEPSEEFVRNNHVINTPLQTMHIMADLGPYKKLGYKKYEHVLCTLKVDSNGVITVKPDFTGLKGPYRIETEGEKQELWKYTIDNVSPHAQPEEEERERRVFKDLYGRHKEYLSSLVGTDFEMTVPGALRLFVNGEVVSAQGYEYDNLYVHFFVELPTAHWSSPAFQQLSGVTQTCTTKSLAMDKVAHFSYPFTFEAFFLHEDESSDALPEWPVLYCEVLSLDFWQRYRVEGYGAVVLPATPGSHTLTVSTWRPVELGTVAELRRFFIGGSLELEDLSYVRIPGSFKGLSSSKTKEGRKVDGERVLNPQPVSLSLFPGKPHSTAWGLLRLRYELFLSK
• Applications: Antibody Production
  Functional Study
  Compound Screening
• 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: 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