Sequence Detail

ID/Version

Q9JI70 Q8BGQ3 (UniProt | EBI)

Last sequence update: 2011-07-27
Last annotation update: 2024-01-24

Sequence description from provider

RecName: Full=Molecular chaperone MKKS {ECO:0000305};AltName: Full=McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin;AltName: Full=Protein Bbs6 homolog;

Provider

SWISS-PROT

Sequence

Polypeptide 570 aa

Source

Organism mouse

See UniProt | EBI for source

Annotated genes and markers

Follow the symbol links to get more information on the GO terms, expression assays, orthologs, phenotypic alleles, and other information for the genes or markers below.

Type	Symbol	Name	GO Terms	Expression Assays	Orthologs	Phenotypic Alleles
Gene	Mkks	McKusick-Kaufman syndrome	56	103	3	9

Sequence references in MGI

J:65055 Stone DL, et al., Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome. Nat Genet. 2000 May;25(1):79-82
J:99276 Fath MA, et al., Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome. Hum Mol Genet. 2005 May 1;14(9):1109-18
J:99680 The FANTOM Consortium and RIKEN Genome Exploration Research Group and Genome Science Group (Genome Network Project Core Group), The Transcriptional Landscape of the Mammalian Genome. Science. 2005;309(5740):1559-1563
J:135832 Rahmouni K, et al., Leptin resistance contributes to obesity and hypertension in mouse models of Bardet-Biedl syndrome. J Clin Invest. 2008 Apr;118(4):1458-67