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PMID:9662399

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Citation

Strom, TM, Nyakatura, G, Apfelstedt-Sylla, E, Hellebrand, H, Lorenz, B, Weber, BH, Wutz, K, Gutwillinger, N, Rüther, K, Drescher, B, Sauer, C, Zrenner, E, Meitinger, T, Rosenthal, A and Meindl, A (1998) An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness. Nat. Genet. 19:260-3

Abstract

The locus for the incomplete form of X-linked congenital stationary night blindness (CSNB2) maps to a 1.1-Mb region in Xp11.23 between markers DXS722 and DXS255. We identified a retina-specific calcium channel alpha1-subunit gene (CACNA1F) in this region, consisting of 48 exons encoding 1966 amino acids and showing high homology to L-type calcium channel alpha1-subunits. Mutation analysis in 13 families with CSNB2 revealed nine different mutations in 10 families, including three nonsense and one frameshift mutation. These data indicate that aberrations in a voltage-gated calcium channel, presumably causing a decrease in neurotransmitter release from photoreceptor presynaptic terminals, are a frequent cause of CSNB2.

Links

PubMed Online version:10.1038/940

Keywords

Amino Acid Sequence; Base Sequence; Calcium Channels/genetics; Calcium Channels, L-Type; DNA Mutational Analysis; DNA, Complementary; Female; Humans; Male; Molecular Sequence Data; Mutation; Night Blindness/congenital; Night Blindness/genetics; Pedigree; Polymorphism, Single-Stranded Conformational; Sequence Homology, Amino Acid; X Chromosome

Significance

Annotations

Gene product Qualifier GO Term Evidence Code with/from Aspect Extension Notes Status

HUMAN:CAC1F

involved_in

GO:0007601: visual perception

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete


See also

References

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