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The Protein Pages

Bardet-Biedl Syndrome 4 Gene (BBS4)

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: 14.03.03

Description

BBS4 is a protein of unknown function. It shows homology to O-linked N-acetylglucosamine transferase(1)

GENE DATA

Exons: 16

Markers / RFLPs:

Transcripts:

Regulatory elements:

Primers: complete

Chromosomes with BBS4 locus
Assignment: 15q22.3-23 Involvement in Retinal Degenerations:

click here to see a compilation of

CLICK

several Mutations found to underlie

Bardet-Biedl Syndrome

PROTEIN DATA
Subunits: 1 Amino acids: 519
Modifications:


Mr/ Weight:


Cofactors:


Motifs:


PROTEIN DATA

Click on entry to see database record online
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Locus Species EC-No. Swissprot TrEMBL Prosite
BBS4 Homo sapiens
Q96RK4 Q8NHU9

GENE DATA

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Locus Species Genbank Unigene OMIM
BBS4 Homo sapiens AF359281 NM_033028 Hs.26471 600374

GENE LOCUS DATA

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Locus Species Genome Database Mouse Genome Database Locus Link

References:
  1. Mykytyn,K., Braun,T., Carmi,R., Haider,N.B., Searby,C.C., Shastri,M., Beck,G., Wright,A.F., Iannaccone,A., Elbedour,K., Riise,R., Baldi,A., Raas-Rothschild,A., Gorman,S.W., Duhl,D.M., Jacobson,S.G., Casavant,T., Stone,E.M., and Sheffield,V.C. Identification of the gene that, when mutated, causes the human obesity syndrome BBS4. 2001; Nat.Genet. 28: 188-191.
    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