Gene: GUCA1A

Alternate names for this Gene: C6orf131|COD3|CORD14|GCAP|GCAP1|GUCA|GUCA1

Gene Summary: This gene encodes an enzyme that plays a role in the recovery of retinal photoreceptors from photobleaching. This enzyme promotes the activity of retinal guanylyl cyclase-1 (GC1) at low calcium concentrations and inhibits GC1 at high calcium concentrations. Mutations in this gene can cause cone dystrophy 3 and code-rod dystrophy 14. provided by RefSeq, Jul 2020]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BM564184.1, L36859.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END##

Gene is located in Chromosome: 6

Location in Chromosome : 6p21.1

Description of this Gene: guanylate cyclase activator 1A

Type of Gene: protein-coding

rs104893967 in GUCA1A gene and CONE DYSTROPHY 3 (disorder) PMID 19459154 2009 Mutations in the GUCA1A gene involved in hereditary cone dystrophies impair calcium-mediated regulation of guanylate cyclase.

PMID 11146732 2001 Autosomal dominant cone and cone-rod dystrophy with mutations in the guanylate cyclase activator 1A gene-encoding guanylate cyclase activating protein-1.

PMID 9425234 1998 A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1.

PMID 11484154 2001 Identification and functional consequences of a new mutation (E155G) in the gene for GCAP1 that causes autosomal dominant cone dystrophy.

PMID 15790869 2005 A novel GCAP1 missense mutation (L151F) in a large family with autosomal dominant cone-rod dystrophy (adCORD).

PMID 15735604 2005 Autosomal dominant cone dystrophy caused by a novel mutation in the GCAP1 gene (GUCA1A).

PMID 15505030 2004 A novel mutation (I143NT) in guanylate cyclase-activating protein 1 (GCAP1) associated with autosomal dominant cone degeneration.

PMID 11108966 2000 Ca(2+)-binding proteins in the retina: from discovery to etiology of human disease(1).

rs104893967 in GUCA1A gene and Macular dystrophy PMID 9425234 1998 A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1.

PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs104893967 in GUCA1A gene and Retinitis Pigmentosa PMID 9425234 1998 A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1.

rs104893968 in GUCA1A gene and Usher Syndrome PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.