MKKS
Identifiers
AliasesMKKS, BBS6, HMCS, KMS, MKS, McKusick-Kaufman syndrome, MKKS centrosomal shuttling protein
External IDsOMIM: 604896 MGI: 1891836 HomoloGene: 10318 GeneCards: MKKS
Orthologs
SpeciesHumanMouse
Entrez

8195

59030

Ensembl

n/a

ENSMUSG00000027274

UniProt

Q9NPJ1
Q9HB66

Q9JI70

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

  1. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000027274 - Ensembl, 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. 1 2 "Entrez Gene: MKKS McKusick-Kaufman syndrome".

Further reading

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