ADCY5 gene

adenylate cyclase 5

The ADCY5 gene provides instructions for making an enzyme called adenylate cyclase 5. This enzyme helps convert a molecule called adenosine triphosphate (ATP) to another molecule called cyclic adenosine monophosphate (cAMP). ATP is a molecule that supplies energy for cells' activities, including muscle contraction, and cAMP is involved in signaling for many cellular functions.

At least six ADCY5 gene mutations have been identified in people with ADCY5-related dyskinesia, a disorder that causes abnormal involuntary movements. These mutations are thought to enhance adenylate cyclase 5 enzyme activity and lead to higher levels of cAMP within cells, so they are described as "gain-of-function" mutations. Other ADCY5 gene mutations prevent production of adenylate cyclase 5. It is unclear how either type of mutation leads to the abnormal movements that occur in this disorder.

Certain normal variations (polymorphisms) in the ADCY5 gene have been associated with an increased risk of type 2 diabetes, which is the most common form of diabetes and results in impaired control of blood sugar. cAMP normally increases in response to increases in blood sugar and is involved in signaling that stimulates the production of insulin. Researchers suggest that the polymorphisms associated with increased type 2 diabetes risk may decrease the ability of the adenylate cyclase 5 enzyme to produce cAMP, resulting in the abnormal response to sugar that occurs in type 2 diabetes.

Cytogenetic Location: 3q21.1, which is the long (q) arm of chromosome 3 at position 21.1

Molecular Location: base pairs 123,282,296 to 123,449,090 on chromosome 3 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: 3q21.1, which is the long (q) arm of chromosome 3 at position 21.1
  • AC5
  • adenylate cyclase type 5
  • adenylate cyclase type 5 isoform 1
  • adenylate cyclase type 5 isoform 2
  • adenylate cyclase type V
  • adenylyl cyclase 5
  • ATP pyrophosphate-lyase 5
  • FDFM