ADCY6

Chr 12

adenylate cyclase 6

Also known as: AC6, LCCS8

NCBI Gene: 112 ENSG00000174233 UniProt: O43306

This protein catalyzes the formation of cAMP downstream of G protein-coupled receptors and functions in signaling cascades in the heart, kidney, and pancreas that regulate cardiac contractility, renal water reabsorption, and pancreatic secretion. Mutations cause lethal congenital contracture syndrome 8, a severe autosomal recessive condition characterized by congenital contractures and early lethality. The gene is highly constrained against loss-of-function variants in the general population.

ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a member of the adenylyl cyclase family of proteins, which are required for the synthesis of cyclic AMP. All members of this family have an intracellular N-terminus, a tandem repeat of six transmembrane domains separated by a cytoplasmic loop, and a C-terminal cytoplasmic domain. The two cytoplasmic regions bind ATP and form the catalytic core of the protein. Adenylyl cyclases are important effectors of transmembrane signaling pathways and are regulated by the activity of G protein coupled receptor signaling. This protein belongs to a small subclass of adenylyl cyclase proteins that are functionally related and are inhibited by protein kinase A, calcium ions and nitric oxide. A mutation in this gene is associated with arthrogryposis multiplex congenita. [provided by RefSeq, May 2015]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtLethal congenital contracture syndrome 8

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)

—

P/LP submissions

—

P/LP missense

0.44

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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