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Editor's Notes from literature on
Editor's Notes McKusick Kaufman /
Bardet-Biedl Syndrome 6 Gene
(MKKS)

Recent update from: 14.03.2003

MKKS Notes

  • Similarities to type II chaperonins
Species: Homo sapiens
See also:
Chromosomal localisation in man: 20p12

in mouse:
Gene Data

:
Exons:
Primers:
Protein Data
Amino acids:
Molecular weight on SDS-PAGE:

calculated:
Reference: (1)
MKKS Notes

Species: Homo sapiens
See also:
Chromosomal localisation in man: 20p12

in mouse:
Gene Data

:
Exons:
Primers:
Protein Data
Amino acids:
Molecular weight on SDS-PAGE:

calculated:
Reference: (2)
MKKS Notes

  • Close markers D20S162, D20S894
  • 2 untranslated exons
  • Homology to t-complex-related proteins (TCRP) and thermosome of thermostable proteins
  • Member of the group II chaperonins
Species: Homo sapiens
See also:
Chromosomal localisation in man: 20p12

in mouse:
Gene Data
mRNA: 2.4 kb (ubiquitous), 7,5 kb heart, skeletal muscle, testis
Exons: 6
Primers:
Protein Data
Amino acids:
Molecular weight on SDS-PAGE:

calculated:
Reference: (3)

References:
  1. Katsanis,N., Beales,P.L., Woods,M.O., Lewis,R.A., Green,J.S., Parfrey,P.S., Ansley,S.J., Davidson,W.S., and Lupski,J.R. Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome. 2000; Nat.Genet. 26: 67-70.
    Link to PubMed
    Goto Top

  2. Slavotinek,A.M., Stone,E.M., Mykytyn,K., Heckenlively,J.R., Green,J.S., Heon,E., Musarella,M.A., Parfrey,P.S., Sheffield,V.C., and Biesecker,L.G. Mutations in MKKS cause Bardet-Biedl syndrome. 2000; Nat.Genet. 26: 15-16.
    Link to PubMed
    Goto Top

  3. Stone,D.L., Slavotinek,A., Bouffard,G.G., Banerjee-Basu,S., Baxevanis,A.D., Barr,M., and Biesecker,L.G. Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome. 2000; Nat.Genet. 25: 79-82.
    Link to PubMed
    Goto Top
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Contact the editor 		This site is maintained and edited by
Dr. rer. medic. Markus Preising, Dipl.Biol.
Molecular Genetics Laboratory
Department of Paediatric Ophthalmology, Strabismology and Ophthalmogenetics
University of Regensburg
Head: Prof. Dr. med. Birgit Lorenz