MKKS

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McKusick-Kaufman syndrome
Identifiers
Symbols MKKS ; BBS6; HMCS; KMS; MKS
External IDs OMIM604896 MGI1891836 HomoloGene10318 GeneCards: MKKS Gene
RNA expression pattern
PBB GE MKKS 218138 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 8195 59030
Ensembl ENSG00000125863 ENSMUSG00000027274
UniProt Q9NPJ1 Q9JI70
RefSeq (mRNA) NM_018848 NM_001141946
RefSeq (protein) NP_061336 NP_001135418
Location (UCSC) Chr 20:
10.39 – 10.41 Mb
Chr 2:
136.87 – 136.89 Mb
PubMed search [1] [2]

McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin is a protein that in humans is encoded by the MKKS gene.[1][2]

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.[2]

References[edit]

  1. ^ Stone DL, Agarwala R, Schaffer AA, Weber JL, Vaske D, Oda T, Chandrasekharappa SC, Francomano CA, Biesecker LG (Apr 1998). "Genetic and physical mapping of the McKusick-Kaufman syndrome". Hum Mol Genet 7 (3): 475–81. doi:10.1093/hmg/7.3.475. PMID 9467007. 
  2. ^ a b "Entrez Gene: MKKS McKusick-Kaufman syndrome". 

External links[edit]

Further reading[edit]