ADCY7

Chr 16

adenylate cyclase 7

Also known as: AC7

NCBI Gene: 113 ENSG00000121281 UniProt: P51828

This gene encodes adenylate cyclase 7, a membrane-bound enzyme that catalyzes the formation of cyclic AMP from ATP and mediates G protein-coupled receptor signaling pathways. Biallelic mutations cause a rare autosomal recessive disorder characterized by early-onset seizures, developmental delay, and immunodeficiency. The gene is highly constrained against loss-of-function variants, indicating intolerance to haploinsufficiency in the general population.

ResearchSummary from RefSeq, UniProt

This gene encodes a membrane-bound adenylate cyclase that catalyses the formation of cyclic AMP from ATP and is inhibitable by calcium. The product of this gene is a member of the adenylyl cyclase class-4/guanylyl cyclase enzyme family that is characterized by the presence of twelve membrane-spanning domains in its sequences. Several transcript variants have been observed for this gene, but the full-length natures of only two have been determined so far. [provided by RefSeq, Oct 2013]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.55

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)