Guanylate cyclase activating proteins, guanylate cyclase and disease.

doi:10.1007/978-1-4615-0121-3_25

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Article

Guanylate cyclase activating proteins, guanylate cyclase and disease.

Advances in experimental medicine and biology - 1 Jan 2002

Newbold Richard J, Deery Evelyne C, Payne Annette M, Wilkie Susan E, Hunt David M, Warren Martin J

Abstract excerpt

A range of cone and cone-rod dystrophies (CORD) have been observed in man, caused by mutations in retinal guanylate cyclase 1 (RetGC1) and guanylate cyclase activating protein 1 (GCAP 1). The CORD causing mutations in RetGC1 are located at a mutation "hot spot" within the dimerisation domain, where R838 is the key residue. Three disease causing mutations have been found in human GCAP1, resulting in cone or...

Topics

Amino Acid Motifs
Amino Acid Sequence
Animals
Calcium
Calcium-Binding Proteins
Circular Dichroism
Dimerization
Dose-Response Relationship, Drug
Electrophoresis, Polyacrylamide Gel
Guanylate Cyclase
Guanylate Cyclase-Activating Proteins
Humans
Ligands
Light

Source

Open in PubMed

Identifiers

PMID: 12596936
DOI: 10.1007/978-1-4615-0121-3_25

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Molecular Sequence Data

Mutation