Retina International's Scientific Newsletter - BBS4 Gene

	Retina International's Scientific Newsletter Editor's Notes from literature on
	Bardet-Biedl Syndrome 4 Gene (BBS4)

Recent update from: 14.03.2003

BBS4

Notes

12 Alu repeats in intron 2
40 Alu repeats in introns
Strongest homology to OGT
TPR motif
Ubiquitous expression
Highest level in kidney

Species: Homo sapiens

See also:

Chromosomal localisation	in man: 15q22.3-q23
	in mouse:

Gene Data

gDNA: 52 kb

Exons: 16

Primers: complete

Protein Data

Amino acids: 519 AA

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (1)

References:

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.
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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