Retina International's Scientific Newsletter - L-type Calcium-Channel Gene

	Retina International's Scientific Newsletter
Editor's Notes from literature on L-type Calcium-Channel Gene (CACNA1F)

Recent update from: 19.12.1999

CACNA1F

Notes

4 transmembrane domains

Species: Homo sapiens

See also:

Chromosomal localisation	in man: Xp11.23
	in mouse:

Gene Data

Exons: 48

Primers:

Protein Data

Aminoacids:

Molecularweight	on SDS-PAGE:
	calculated:

Reference: (1)

CACNA1F

Notes

Dihydropyridine-sensitive long-lasting Ca²⁺ channel
28 kb genomic segments
5 kb 5' from synaptophysin gene
55 - 62% AA identity to L-type Ca²⁺ channels
Transcription in ONL, INL, GCL in mouse
Disease caused by defective transmission of nerve impuls
Mutations may impair Ca²⁺ influx required for tonic glutamate release

Species: Homo sapiens

See also:

Chromosomal localisation	in man: Xp11.23
	in mouse:

Gene Data

mRNA: 6.3 kb

Exons: 48

Primers:

Protein Data

Aminoacids: 1966 AA

Molecularweight	on SDS-PAGE: 219.5 kD
	calculated:

Reference: (2)

References:

1. Bech Hansen, N.T., Naylor, M.J., Maybaum, T.A., Pearce, W.G., Koop, B., Fishman, G.A., Mets, M., Musarella, M.A., and Boycott, K.M. Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness. 1998; Nat.Genet. 19: 264 - 267.
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2. Strom, T.M., Nyakatura, G., Apfelstedt-Sylla, E., Hellebrand, H., Lorenz, B., Weber, B.H., Wutz, K., Gutwillinger, N., Ruther, K., Drescher, B., Sauer, C., Zrenner, E., Meitinger, T., Rosenthal, A., and Meindl, A. An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness. 1998; Nat.Genet. 19: 260 - 263.
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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