Search for a gene
GUCA1A - guanylate cyclase activator 1A
- Synonym(s) : COD3, cone dystrophy 3, CORD14, dJ139D8.6, GCAP, GCAP1
- Previous symbols and names : C6orf131, GUCA, GUCA1, chromosome 6 open reading frame 131, guanylate cyclase activator 1A (retina)
- Type : gene with protein product
- Chromosomal location : 6p21.1
- OMIM: 600364
- HGNC: 4678
- UniProtKB: P43080
- Genatlas: GUCA1A
- GenCC: GUCA1A
- Ensembl: ENSG00000048545
- IUPHAR-DB: -
- Reactome: P43080
- LOVD: GUCA1A
Diseases list
- Disease-causing germline mutation(s) in Cone rod dystrophy
ORPHA:1872 
- Disease-causing germline mutation(s) in Progressive cone dystrophy
ORPHA:1871 - Disease-causing germline mutation(s) (gain of function) in Central areolar choroidal dystrophy
ORPHA:75377
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.
Orphanet is part of the Gene Curation Coalition, a global effort to harmonise gene-level resources.