McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin (MKKS) Recombinant Protein | MKKS recombinant protein

Recombinant Human McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin (MKKS)

Cat. Num. AAA1295575

• Gene Names: MKKS; KMS; MKS; BBS6; HMCS
• Purity: Greater or equal to 85% purity as determined by SDS-PAGE.
• Synonyms: McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin (MKKS); Recombinant Human McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin (MKKS); MKKS recombinant protein

• Host: E Coli or Yeast or Baculovirus or Mammalian Cell
• Purity/Purification: Greater or equal to 85% purity as determined by SDS-PAGE.
• Form/Format: Lyophilized or liquid (Format to be determined during the manufacturing process)
• Sequence Positions: 1-570, Full length protein
• Sequence: MSRLEAKKPSLCKSEPLTTERVRTTLSVLKRIVTSCYGPSGRLKQLHNGFGGYVCTTSQSSALLSHLLVTHPILKILTASIQNHVSSFSDCGLFTAILCCNLIENVQRLGLTPTTVIRLNKHLLSLCISYLKSETCGCRIPVDFSSTQILLCLVRSILTSKPACMLTRKETEHVSALILRAFLLTIPENAEGHIILGKSLIVPLKGQRVIDSTVLPGILIEMSEVQLMRLLPIKKSTALKVALFCTTLSGDTSDTGEGTVVVSYGVSLENAVLDQLLNLGRQLISDHVDLVLCQKVIHPSLKQFLNMHRIIAIDRIGVTLMEPLTKMTGTQPIGSLGSICPNSYGSVKDVCTAKFGSKHFFHLIPNEATICSLLLCNRNDTAWDELKLTCQTALHVLQLTLKEPWALLGGGCTETHLAAYIRHKTHNDPESILKDDECTQTELQLIAEAFCSALESVVGSLEHDGGEILTDMKYGHLWSVQADSPCVANWPDLLSQCGCGLYNSQEELNWSFLRSTRRPFVPQSCLPHEAVGSASNLTLDCLTAKLSGLQVAVETANLILDLSYVIEDKN
• Sequence Length: 570

• Species: Human
• Preparation and Storage: Store at -20 degrees C. For long-term storage, store at -20 degrees C or -80 degrees C. Store working aliquots at 4 degrees C for up to one week. Repeated freezing and thawing is not recommended.

Related Product Information for MKKS recombinant protein

This gene encodes a protein with sequence similarity to the chaperonin family. The encoded protein may have a role in protein processing in limb, cardiac and reproductive system development. Mutations in this gene have been observed in patients with Bardet-Biedl syndrome type 6 and McKusick-Kaufman syndrome. Two transcript variants encoding the same protein have been identified for this gene.

NCBI and Uniprot Product Information

• NCBI GI #: 9055272
• NCBI GeneID: 8195
• NCBI Accession #: NP_061336.1
• NCBI GenBank Nucleotide #: NM_018848.3
• UniProt Accession #: Q9NPJ1; A8K7B0; D3DW18
• Molecular Weight: 62,342 Da
• NCBI Official Full Name: McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin
• NCBI Official Synonym Full Names: McKusick-Kaufman syndrome
• NCBI Official Symbol: MKKS
• NCBI Official Synonym Symbols: KMS; MKS; BBS6; HMCS
• NCBI Protein Information: McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin
• UniProt Protein Name: McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin
• Protein Family: McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin
• UniProt Gene Name: MKKS

NCBI Description

This gene encodes a protein which shares sequence similarity with other members of the type II chaperonin family. The encoded protein is a centrosome-shuttling protein and plays an important role in cytokinesis. This protein also interacts with other type II chaperonin members to form a complex known as the BBSome, which involves ciliary membrane biogenesis. This protein is encoded by a downstream open reading frame (dORF). Several upstream open reading frames (uORFs) have been identified, which repress the translation of the dORF, and two of which can encode small mitochondrial membrane proteins. Mutations in this gene have been observed in patients with Bardet-Biedl syndrome type 6, also known as McKusick-Kaufman syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013]

Uniprot Description

Probable molecular chaperone. Assists the folding of proteins upon ATP hydrolysis. As part of the BBS/CCT complex plays a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia. May play a role in protein processing in limb, cardiac and reproductive system development. May play a role in cytokinesis.