Retina International's Scientific Newsletter -USH3

	Retina International's Scientific Newsletter
Editor's Notes from literature on USH3 Gene

Recent update from: 20.08.2002

USH3

Notes

Expressed in many tissues including retina
18 kb genomic DNA
Splice form includes 87 bp exon 1b including an in frame stop codon
5' UTR 392 bp, 3' UTR 692 bp
5 possible promotor lack TATA-box
Promotor include CCAAT- and GC-box
cDNA of 1444 bp
Cytosolic N-terminus
2 TMD (AA 25-41 and 63-79)
ER retention signal (TKGH)

Species: Homo sapiens

See also:

Chromosomal localisation	in man: 3q21-25
	in mouse:

Gene Data

mRNA: 4.5 kb, 1.5 kb, 1 kb

Exons: 4

Primers:

Protein Data

Amino acids: 120 AA

Molecular weight	on SDS-PAGE:
	calculated: 13.4 kDa

Reference: (1)

References:

Joensuu,T., Hamalainen,R., Yuan,B., Johnson,C., Tegelberg,S., Gasparini,P., Zelante,L., Pirvola,U., Pakarinen,L., Lehesjoki,A.E., la Chapelle,A., and Sankila,E.M. Mutations in a novel gene with transmembrane domains underlie usher syndrome type 3. 2001; Am.J.Hum Genet. 69: 673-684.
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