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Article

Functional consequences of a rod outer segment membrane guanylate cyclase (ROS-GC1) gene mutation linked with Leber's congenital amaurosis.

Biochemistry - 12 Jan 1999

Duda T, Venkataraman V, Goraczniak R, Lange C, Koch K W, Sharma R K

Abstract excerpt

ROS-GC1 is the original member of the subfamily of membrane guanylate cyclases with two Ca2+ switches, which have been defined as CRM1 and CRM2. These are separately located within the intracellular domain of the cyclase. CRM1 switches on the enzyme at nanomolar concentrations of Ca2+ and is link...

Topics

Animals
Calcium
Calcium-Binding Proteins
Genetic Linkage
Guanylate Cyclase
Guanylate Cyclase-Activating Proteins
Humans
Mutation
Optic Atrophies, Hereditary
Phenylalanine
Receptors, Cell Surface

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Rod Cell Outer Segment

Serine

Source

Identifiers

PMID: 9888789
DOI: 10.1021/bi9824137

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9888789-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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