Retina International's Scientific Newsletter

	Retina International's Scientific Newsletter Editor's Notes from literature on
	Bardet-Biedl Syndrome 1 Gene (BBS2L2)

Recent update from: 14.03.2003

BBS2L2

Notes

Identical to BBS2L2
Belongs to a subfamily of protein swith BBS2L1 and BBS2
High similarity to BBS2 and BBS2L1 between AA 147 and 398
Accounts for 40% of BBS mutations
Subfamily may be mutually substitutive for each other
Heterozygous BBS1 mutation coincides with homozygous BBS2L1 mutation
If BBS1 mutation is required for pathogenesis or is an modulating factor is not proven yet

Species: Homo sapiens

See also:

Chromosomal localisation	in man: 11q13
	in mouse:

Gene Data

Exons:

Primers:

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (1)

BBS2L2

Notes

Species: Homo sapiens

See also:

Chromosomal localisation	in man: 11q13
	in mouse:

Gene Data

mRNA: 1663 bp

Exons: 17

Primers:

Protein Data

Amino acids: 593 AA

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (2)

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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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