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ADCY5 gene

adenylate cyclase 5
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Normal Function

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.

Health Conditions Related to Genetic Changes

ADCY5-related dyskinesia

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.

More About This Health Condition

Other disorders

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.

Other Names for This Gene

  • 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

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Research Resources

References

  • Carapito R, Paul N, Untrau M, Le Gentil M, Ott L, Alsaleh G, Jochem P, Radosavljevic M, Le Caignec C, David A, Damier P, Isidor B, Bahram S. A de novo ADCY5 mutation causes early-onset autosomal dominant chorea and dystonia. Mov Disord. 2015 Mar;30(3):423-7. doi: 10.1002/mds.26115. Epub 2014 Dec 27. Citation on PubMed
  • Chen DH, Méneret A, Friedman JR, Korvatska O, Gad A, Bonkowski ES, Stessman HA, Doummar D, Mignot C, Anheim M, Bernes S, Davis MY, Damon-Perrière N, Degos B, Grabli D, Gras D, Hisama FM, Mackenzie KM, Swanson PD, Tranchant C, Vidailhet M, Winesett S, Trouillard O, Amendola LM, Dorschner MO, Weiss M, Eichler EE, Torkamani A, Roze E, Bird TD, Raskind WH. ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations. Neurology. 2015 Dec 8;85(23):2026-35. doi: 10.1212/WNL.0000000000002058. Epub 2015 Nov 4. Citation on PubMed or Free article on PubMed Central
  • Chen YZ, Friedman JR, Chen DH, Chan GC, Bloss CS, Hisama FM, Topol SE, Carson AR, Pham PH, Bonkowski ES, Scott ER, Lee JK, Zhang G, Oliveira G, Xu J, Scott-Van Zeeland AA, Chen Q, Levy S, Topol EJ, Storm D, Swanson PD, Bird TD, Schork NJ, Raskind WH, Torkamani A. Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia. Ann Neurol. 2014 Apr;75(4):542-9. doi: 10.1002/ana.24119. Epub 2014 Mar 13. Citation on PubMed or Free article on PubMed Central
  • Chen YZ, Matsushita MM, Robertson P, Rieder M, Girirajan S, Antonacci F, Lipe H, Eichler EE, Nickerson DA, Bird TD, Raskind WH. Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5. Arch Neurol. 2012 May;69(5):630-5. doi: 10.1001/archneurol.2012.54. Citation on PubMed or Free article on PubMed Central
  • Hodson DJ, Mitchell RK, Marselli L, Pullen TJ, Gimeno Brias S, Semplici F, Everett KL, Cooper DM, Bugliani M, Marchetti P, Lavallard V, Bosco D, Piemonti L, Johnson PR, Hughes SJ, Li D, Li WH, Shapiro AM, Rutter GA. ADCY5 couples glucose to insulin secretion in human islets. Diabetes. 2014 Sep;63(9):3009-21. doi: 10.2337/db13-1607. Epub 2014 Apr 16. Citation on PubMed or Free article on PubMed Central
  • Mencacci NE, Erro R, Wiethoff S, Hersheson J, Ryten M, Balint B, Ganos C, Stamelou M, Quinn N, Houlden H, Wood NW, Bhatia KP. ADCY5 mutations are another cause of benign hereditary chorea. Neurology. 2015 Jul 7;85(1):80-8. doi: 10.1212/WNL.0000000000001720. Epub 2015 Jun 17. Citation on PubMed or Free article on PubMed Central
  • Raskind WH, Matsushita M, Peter B, Biberston J, Wolff J, Lipe H, Burbank R, Bird TD. Familial dyskinesia and facial myokymia (FDFM): Follow-up of a large family and linkage to chromosome 3p21-3q21. Am J Med Genet B Neuropsychiatr Genet. 2009 Jun 5;150B(4):570-4. doi: 10.1002/ajmg.b.30879. Citation on PubMed or Free article on PubMed Central
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