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The Protein Pages

McKusick-Kaufman /
Bardet-Biedl Syndrome 6 Gene (MKKS)

To see compiled data on further species click on the topics.
To see the reference for the human data click on the data

Editor's Notes from the Literature

Recent update from: 15.03.2003

Description

MKKS is a protein of unknown function. It shows homology to group II chaperonins (1)

GENE DATA

Exons: 6

Markers / RFLPs: D20S162, D20S894

Transcripts:

Chromosome with MKKS locus
Assignment: 20p12 Involvement in Retinal Degenerations:

click here to see a compilation of

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several Mutations found to underlie

Bardet-Biedl Syndrome

PROTEIN DATA
Subunits: 1 Amino acids: 540
Modifications:


Mr/ Weight:


Cofactors:


Motifs:

TCRP domain

PROTEIN DATA

Click on entry to see database record online
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Locus Species EC-No. Swissprot TrEMBL Prosite
MKKS Homo sapiens
Q9NPJ1

MKKS Mus musculus
Q9JI70

GENE DATA

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Locus Species Genbank Unigene OMIM
MKKS Homo sapiens AF221992 AF221993 AL034430 XM_009645 NM_018848 NM_170784 Hs.46743 604896

GENE LOCUS DATA

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Locus Species Genome Database Mouse Genome Database Locus Link
MKKS Homo sapiens mkks
8195
MKKS Mus musculus
48128 59030

References:
  1. 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
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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