PDE11A基因突变因子与药物介绍
3'，5'-环核苷酸camp和cgmp在多种信号转导途径中起第二信使的作用。3'，5'-环核苷酸磷酸二酯酶（pdes）催化camp和cgmp水解为相应的5'-单磷酸，并提供下调camp和cgmp信号的机制。这个基因编码pde蛋白超家族的一个成员。该基因突变是库欣病和肾上腺皮质增生的原因。已发现该基因编码不同亚型的多个转录变体。[由RefSeq提供，2008年7月]
The 3',5'-cyclic nucleotides cAMP and cGMP function as second messengers in a wide variety of signal transduction pathways. 3',5'-cyclic nucleotide phosphodiesterases (PDEs) catalyze the hydrolysis of cAMP and cGMP to the corresponding 5'-monophosphates and provide a mechanism to downregulate cAMP and cGMP signaling. This gene encodes a member of the PDE protein superfamily. Mutations in this gene are a cause of Cushing disease and adrenocortical hyperplasia. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
