Retina International's Scientific Newsletter

	Retina International's Scientific Newsletter Editor's Notes from literature on
	Bardet-Biedl Syndrome 7 Gene (BBS2L1)

Recent update from: 14.03.2003

BBS2L1

Notes

Belongs to a subfamily of protein swith BBS1 and BBS2
High similarity to BBS2 and BBS1 between AA 147 and 398
Subfamily may be mutually substitutive for each other
Alternative splicing of 3' end
Heterozygous BBS1 mutation coincides with homozygous BBS2L1 mutation
If BBS1 mutation is required for pathogenesis or is an modulating factor is not proven yet
Expressed in multiple tissues as short isoform
Long isoform is missing in some tissues

Species: Homo sapiens

See also:

Chromosomal localisation	in man: 4q27
	in mouse:

Gene Data

mRNA: 2580 bp

Exons: 19

Primers:

Protein Data

Amino acids: 672 AA, 716 AA

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (1)

Bbs2l1

Notes

Species: Mus musculus (domesticus)

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

mRNA: 2594

Exons:

Primers:

Protein Data

Amino acids: 716 AA

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (1)

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
Goto Top

	Return to Retina International's Scientific Newsletter	Return to page head
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