Retina International's Scientific Newsletter

	Retina International's Scientific Newsletter
Editor's Notes from literature on RP2-Gene

Recent update from: 03.01.2000

RP2

Notes

Identified by LINE1 element insertion
Interval between DXS8083 - DXS6616 (5 cM)
18% mutation detection
Mechanism unknown
RT-PCR in lymphoblastoid cell lines possible
Possible involvement in organization of cytoskeleton elements
Expressed in INL and ONL of mouse

Species: Homo sapiens

See also:

Chromosomal localisation	in man:
	in mouse:

Gene Data

mRNA: 4 kb

Exons: 5

Primers: complete online

Protein Data

Amino acids: 350 AA

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (1)

References:

1. Schwahn, U., Lenzner, S., Dong, J., Feil, S., Hinzmann, B., van Duijnhoven, G., Kirschner, R., Hemberger, M., Bergen, A.A.B., Rosenberg, T., Pinckers, A.J.L.G., Fundele, R., Rosenthal, A., Cremers, F.P.M., Ropers, H.H., and Berger, W. Positional cloning of the gene for X-linked retinitis pigmentosa 2 (RP2). 1998; Am.J.Hum.Genet. 63: A4
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Contact the editor: irpamp@irpa.org	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