Retina International's Scientific Newsletter - Usherin

	Retina International's Scientific Newsletter
Editor's Notes from literature on Usherin (USH2A)

Recent update from: 20.08.2002

USH2A,

Notes

Motifs:
- Laminin type IV domain (cd 317 - 518)
- Laminin EGF domain (cd 519 - 1052)
- Fibronectin type III domain (cd 1053 - 1462)
Signal peptide (codon 1 - 32)
105 kb genomic DNA
Poly-A signal 340 bp fom 3' end
Exon-intron boundaries

Species: Homo sapiens

See also:

Chromosomal localisation	in man: 1q41
	in mouse:

Gene Data

mRNA:

Exons: 21

Primers: Complete

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE:
	calculated: 171.5 kDa

Reference: (1)

References:

Weston,M.D., Eudy,J.D., Fujita,S., Yao,S., Usami,S., Cremers,C., Greenburg,J., Ramesar,R., Martini,A., Moller,C., Smith,R.J., Sumegi,J., and Kimberling,W.J. Genomic Structure and Identification of Novel Mutations in Usherin, the Gene Responsible for Usher Syndrome Type IIa. 2000; Am.J.Hum.Genet. 66: 1199-1210.
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