GUCA1A

guanylate cyclase activator 1A

3 disorders 2 untyped 1 causative 6p21.1 gene with protein product

HGNC:4678 Monarch NCBI Gene 2978 ENSG00000048545 UniProt P43080 OMIM 600364

Previous symbols: GUCA, GUCA1, C6orf131. Aliases: GCAP, GCAP1, COD3, dJ139D8.6, CORD14, GCAP-I, GCAP-1.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
Cone Dystrophy	causative germline
Central Areolar Choroidal Dystrophy	untyped Causative
GUCA1A-Related Retinopathy	untyped Causative germline gain of function	mechanism: GCAP1 Loss of Calcium-Dependent Inhibitory Control; RetGC Constitutive Hyperactivity

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
cone dystrophy 3 MONDO:0011193	AD	Definitive 2025-05-15	no dismech entry

Mechanism modules · computed from kb/

phototransduction_cascade_dysfunction via GUCA1A-Related Retinopathy

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.