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Article

An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness.

Nature genetics - 1 Jul 1998

Strom T M, Nyakatura G, Apfelstedt-Sylla E, Hellebrand H, Lorenz B, Weber B H, Wutz K, Gutwillinger N, Rüther K, Drescher B, Sauer C, Zrenner E, Meitinger T, Rosenthal A, Meindl A

Abstract excerpt

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 amin...

Topics

Amino Acid Sequence
Base Sequence
Calcium Channels
Calcium Channels, L-Type
DNA Mutational Analysis
DNA, Complementary
Female
Humans
Male
Molecular Sequence Data
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Night Blindness

Pedigree

Polymorphism, Single-Stranded Conformational

Sequence Homology, Amino Acid

X Chromosome

Source

Identifiers

PMID: 9662399
DOI: 10.1038/940

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9662399-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness.PMID 9662399Read ↗

Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness.Semantic proximity Read ↗

A novel CACNA1F mutation in a french family with the incomplete type of X-linked congenital stationary night blindness.Semantic proximity Read ↗

A CACNA1F mutation identified in an X-linked retinal disorder shifts the voltage dependence of Cav1.4 channel activation.Semantic proximity Read ↗

Congenital stationary night blindness type 2 mutations S229P, G369D, L1068P, and W1440X alter channel gating or functional expression of Ca(v)1.4 L-type Ca2+ channels.Semantic proximity Read ↗

The Ca(v)1.4 calcium channel: more than meets the eye.Semantic proximity Read ↗

The CACNA1F gene encodes an L-type calcium channel with unique biophysical properties and tissue distribution.Semantic proximity Read ↗

Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina.Semantic proximity Read ↗

A novel p.Gly603Arg mutation in CACNA1F causes Åland island eye disease and incomplete congenital stationary night blindness phenotypes in a family.Semantic proximity Read ↗

Congenital stationary night blindness in mice - a tale of two Cacna1f mutants.Semantic proximity Read ↗

Photoreceptor degeneration in two mouse models for congenital stationary night blindness type 2.Semantic proximity Read ↗

Clinical manifestations of a unique X-linked retinal disorder in a large New Zealand family with a novel mutation in CACNA1F, the gene responsible for CSNB2.Semantic proximity Read ↗

Cav1.4 dysfunction and congenital stationary night blindness type 2.Semantic proximity Read ↗

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