GeneID: 92

Description:
ADCY6 belongs to class III adenylyl cyclases that catalyse the formation of the second messenger cyclic AMP (cAMP) from ATP. Adenylyl cyclases are activated by external stimuli through interaction with cell surface receptors coupled to G proteins. They consist of a short variable amino terminus, two repeats of a unit composed of six transmembrane spans, and two cytoplasmic domains. The two cytoplasmic domains interact to form the catalytic core of the enzyme with the ATP-binding site. Adenylyl cyclases are important effectors in different transmembrane signalling pathways and function to activate downstream cAMP-dependent protein kinases, transcription factors and ion channels involved in the regulation of a wide range of physiological processes. The encoded 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. Polymorphisms in this gene were shown to affect red blood cell adhesion to laminin in sickle cell patients.

Synonyms: AC6 , LCCS8

Comments:
N/A

Number of entries/variants: 3

1. Patel TB, Du Z, Pierre S, Cartin L, Scholich K, Molecular biological approaches to unravel adenylyl cyclase signaling and function., Gene , 269(1), 13-25, 2001 PubMed
2. Linder JU, Class III adenylyl cyclases: molecular mechanisms of catalysis and regulation., Cell. Mol. Life Sci. , 63(15), 1736-51, 2006 PubMed
3. Eyler CE, Jackson T, Elliott LE, De Castro LM, Jonassaint J, Ashley-Koch A, Telen MJ, beta(2)-Adrenergic receptor and adenylate cyclase gene polymorphisms affect sickle red cell adhesion., Br. J. Haematol. , 141(1), 105-8, 2008 PubMed