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MKKS

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MKKS
Identifiers
AliasesMKKS, BBS6, HMCS, KMS, MKS, McKusick-Kaufman syndrome, MKKS centrosomal shuttling protein
External IDsOMIM: 604896; MGI: 1891836; HomoloGene: 10318; GeneCards: MKKS; OMA:MKKS - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_018848
NM_170784
NM_001394148
NM_001394149

NM_001141946
NM_001286981
NM_001286983
NM_021527

RefSeq (protein)

NP_061336
NP_740754

NP_001135418
NP_001273910
NP_001273912
NP_067502

Location (UCSC)n/aChr 2: 136.72 – 136.73 Mb
PubMed search[2][3]
Wikidata
View/Edit HumanView/Edit Mouse

McKusick–Kaufman/Bardet–Biedl syndromes putative chaperonin is a protein that in humans is encoded by the MKKS gene.[4][5]

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.[5]

References

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  1. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000027274Ensembl, May 2017
  2. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ 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. CiteSeerX 10.1.1.332.5058. doi:10.1093/hmg/7.3.475. PMID 9467007.
  5. ^ a b "Entrez Gene: MKKS McKusick-Kaufman syndrome".
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Further reading

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