ADCY8

Chr 8

adenylate cyclase 8

Also known as: AC8, ADCY3, HBAC1

NCBI Gene: 114 ENSG00000155897 UniProt: P40145

Adenylyl cyclase 8 is a membrane-bound enzyme that catalyzes the formation of cyclic AMP from ATP in response to calcium entry, playing critical roles in synaptic plasticity, learning and memory, and insulin secretion. Mutations cause autosomal recessive developmental and epileptic encephalopathy with movement abnormalities, typically presenting in early infancy with seizures and severe developmental delays. This gene is highly constrained against loss-of-function variants, indicating that complete loss of protein function is likely incompatible with normal development.

ResearchSummary from RefSeq, UniProt

Adenylate cyclase is a membrane bound enzyme that catalyses the formation of cyclic AMP from ATP. The enzymatic activity is under the control of several hormones, and different polypeptides participate in the transduction of the signal from the receptor to the catalytic moiety. Stimulatory or inhibitory receptors (Rs and Ri) interact with G proteins (Gs and Gi) that exhibit GTPase activity and they modulate the activity of the catalytic subunit of the adenylyl cyclase [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.54

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)