ADCY9

Chr 16

adenylate cyclase 9

Also known as: AC9, ACIX

NCBI Gene: 115 ENSG00000162104 UniProt: O60503

Adenylate cyclase 9 is a membrane-bound enzyme that catalyzes the formation of cyclic AMP from ATP in response to G protein-coupled receptor activation, contributing to signaling cascades involving corticotropin-releasing factor, corticosteroids, and beta-adrenergic receptors. Mutations in this highly constrained gene (pLI 0.98, LOEUF 0.31) cause autosomal recessive intellectual disability with hypotonia and behavioral abnormalities. The gene shows extreme intolerance to loss-of-function variants, suggesting that even heterozygous loss may have clinical consequences.

ResearchSummary from RefSeq, UniProt

Adenylate cyclase is a membrane bound enzyme that catalyses the formation of cyclic AMP from ATP. It is regulated by a family of G protein-coupled receptors, protein kinases, and calcium. The type 9 adenylyl cyclase is a widely distributed adenylyl cyclase, and it is stimulated by beta-adrenergic receptor activation but is insensitive to forskolin, calcium, and somatostatin. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.31

LOEUF· LoF intol.

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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