Retina International's Scientific Newsletter

	Retina International's Scientific Newsletter The Protein Pages
Bardet-Biedl Syndrome 7 Gene (BBS2L1) To see compiled data on further species click on the topics. To see the reference for the human data click on the data

Recent update from: 15.03.2003

Description BBS2L1 is a protein of unknown function. It shows homology to BBS2 in a coiled coil domain(1) GENE DATA Exons: 19 Markers / RFLPs: Transcripts: mRNA: 2580 bp Regulatory elements: Primers:
Assignment: 4q27	Involvement in Retinal Degenerations: click here to see a compilation of several Mutations found to underlie Bardet-Biedl Syndrome
PROTEIN DATA
Subunits: 1	Amino acids: 2 splice forms: 672 AA ubiquitous: 716 AA
Modifications:	M_r/ 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

GENE DATA

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Locus Species Genbank Unigene OMIM

BBS7 Homo sapiens AF521643 AF521644 NM_018190 Hs.58974 607590

Bbs7 Mus musculus AF521645

GENE LOCUS DATA

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Locus Species Genome Database Mouse Genome Database Locus Link

References:

Badano,J.L., Ansley,S.J., Leitch,C.C., Lewis,R.A., Lupski,J.R., and Katsanis,N. Identification of a Novel Bardet-Biedl Syndrome Protein, BBS7, That Shares Structural Features with BBS1 and BBS2. 2003; Am.J.Hum.Genet. 72: 650-658.
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