MKKS

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MKKS
Identifiers
Aliases MKKS, BBS6, HMCS, KMS, MKS, McKusick-Kaufman syndrome
External IDs MGI: 1891836 HomoloGene: 10318 GeneCards: MKKS
RNA expression pattern
PBB GE MKKS 218138 at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_018848
NM_170784

NM_001141946
NM_001286981
NM_001286983
NM_021527

RefSeq (protein)

NP_061336
NP_740754

Location (UCSC) Chr 20: 10.4 – 10.43 Mb Chr 2: 136.87 – 136.89 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin is a protein that in humans is encoded by the MKKS gene.[3][4]

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.[4]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ 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. 
  4. ^ a b "Entrez Gene: MKKS McKusick-Kaufman syndrome". 

External links[edit]

Further reading[edit]