Retina International's Scientific Newsletter

	Retina International's Scientific Newsletter
Editor's Notes from literature on Bestrophin (VMD2)

Recent update from: 18.12.1999

VMD2

Notes

Translation starts in exon 2
Overlapping 3' UTR with FTH1
Belongs to RFP protein family
Retina specific transcripts 2.2, weak transcript of 2.2 kb in brain and testis + 4.3 kb dominant transcript
RPE specific expression in situ
May influence the transport or metabolism of an essential component of lipofuscin granules
IP = 6.9

Species: Homo sapiens

See also:

Chromosomal localisation	in man: 11q13
	in mouse:

Gene Data

mRNA: 2.2 kb

Exons: 11

Primers: complete

Protein Data

Aminoacids: 585 AA

Molecularweight	on SDS-PAGE: 68 kD
	calculated:

Reference: (2)

VMD2

Notes

Unknown function
Flanking markers: D11S4076-FEN1-VMD2-FTH1-UGB
Exon intron bounderies
IP=6.9
Several potential N-glycosylation sites
- AA190-193
- AA 365-368
- AA 540-543
Significant homologies to the RFP proteins
Transcript exclusively detected in RPE

Species: Homo sapiens

See also:

Chromosomal localisation	in man: 11q13
	in mouse:

Gene Data

mRNA: 2.4 kb

Exons: 11

Primers: complete

Protein Data

Aminoacids: 585 AA

Molecularweight	on SDS-PAGE: 67.7 kD
	calculated:

Reference: (1)

References:

1. Marquardt, A., Stohr, H., Passmore, L.A., Kramer, F., Rivera, A., Weber, B.H.F., and Weber, B.H. Mutations In A Novel Gene, Vmd2, Encoding A Protein Of Unknown Properties Cause Juvenile-Onset Vitelliform Macular Dystrophy (Bests-Disease). 1998; Hum.Mol.Genet. 7: 1517 - 1525.
Goto Top

2. Petrukhin, K., Koisti, M.J., Bakall, B., Li, W., Xie, G., Marknell, T., Sandgren, O., Forsman, K., Holmgren, G., Andreasson, S., Vujic, M., Bergen, A.A., McGarty Dugan, V., Figueroa, D., Austin, C.P., Metzker, M.L., Caskey, C.T., and Wadelius, C. Identification of the gene responsible for Best macular dystrophy. 1998; Nat.Genet. 19: 241 - 247.
Goto Top

	Return to Retina International's Scientific Newsletter	Return to pagehead
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