ADCY5
Sign in to saveAlso known as AC5, FDFM, adenylate cyclase 5, DSKOD
Adenylyl cyclase type 5 is an enzyme that in humans is encoded by the ADCY5 gene.
Gene data
ADCY5- Name
- adenylate cyclase 5
- Type
- protein-coding
- Aliases
- AC5, DSKOD, FDFM
This gene encodes a member of the membrane-bound adenylyl cyclase enzymes. Adenylyl cyclases mediate G protein-coupled receptor signaling through the synthesis of the second messenger cAMP. Activity of the encoded protein is stimulated by the Gs alpha subunit of G protein-coupled receptors and is inhibited by protein kinase A, calcium and Gi alpha subunits. Single nucleotide polymorphisms in this gene may be associated with low birth weight and type 2 diabetes. Alternatively spliced transcript variants that encode different isoforms have been observed for this gene. [provided by RefSeq, Dec 2010].
via MyGene.info
Gene · Ensembl
adenylate cyclase 5
- Symbol
- ADCY5
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 3:123,282,296-123,449,795
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Image
- Structure 8SL4 dimeric form of human AC5.jpg
Show 5 more facts
- HomoloGene ID
- 11213
- exact match
- identifiers.org/ncbigene/111
- genomic end
- 123449090
- genomic start
- 123001143
- cytogenetic location
- 3q21.1
via Wikidata · CC0
~8 min read
Article
13 sectionsContents
- Structure
- Function
- Interactions
- Clinical significance
- Mixed movement disorders
- Symptoms and diagnosis
- Genetics
- Pathophysiology
- Treatment
- Other clinical implications
- References
- External links
- Further reading
Adenylyl cyclase type 5 is an enzyme that in humans is encoded by the ADCY5 gene.
The human ADCY5 gene is located on the long arm of chromosome 3 and codes for the enzyme Adenylyl Cyclase 5 (AC5). This membrane protein has catalytic activity to convert adenosine triphosphate (ATP) into cyclic adenosine monophosphate (cAMP). In the brain, this enzyme is highly expressed in medium spiny neurons (MSNs) in the striatum. It is also found in non-neuronal cells such as cardiomyocytes and pancreatic islets. AC5 plays a role in several physiological processes including the modulation of neuronal activity particularly in the striatum, thus variants in ADCY5 gene typically lead to movement disorders.