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The Protein Pages

Bardet-Biedl Syndrome 1 Gene (BBS2L2)

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

BBS2L2 is a protein of unknown function. It shows homology to BBS2 in a coiled coil domain(1)

GENE DATA

Exons: 17

Markers / RFLPs:

Transcripts: 1663 bp

Regulatory elements:

Primers:

Chromosomes with BBS1 locus
Assignment: 11q13 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: 593
Modifications:


Mr/ Weight:


Cofactors:


Motifs:

Coiled-coil domain

PROTEIN DATA

Click on entry to see database record online
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Locus Species EC-No. Swissprot TrEMBL Prosite
BBS1 Homo sapiens

Q8NFJ9

GENE DATA

Click on entry to see database record online
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Locus Species Genbank Unigene OMIM
BBS1 Homo sapiens NM_024649 AF503941 Hs.399815 209901

GENE LOCUS DATA

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Locus Species Genome Database Mouse Genome Database Locus Link

References:
  1. Mykytyn,K., Nishimura,D.Y., Searby,C.C., Shastri,M., Yen,H.J., Beck,J.S., Braun,T., Streb,L.M., Cornier,A.S., Cox,G.F., Fulton,A.B., Carmi,R., Luleci,G., Chandrasekharappa,S.C., Collins,F.S., Jacobson,S.G., Heckenlively,J.R., Weleber,R.G., Stone,E.M., and Sheffield,V.C. Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. 2002; Nat.Genet. 31: 435-438.
    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