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Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, and the skeletal muscle isoform is encoded by this gene. The beta subunit is the same in both the muscle and hepatic isoforms, and encoded by one gene. The gamma subunit also includes the skeletal muscle and hepatic isoforms, which are encoded by two different genes. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9D, also known as X-linked muscle glycogenosis. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. A pseudogene has been found on chromosome 1.[provided by RefSeq, Feb 2010]
[中文简述(自动翻译):]  磷酸化酶激酶为16亚基,四α,β,γ和δ的各聚合物。 α亚基包括骨骼肌和肝脏同种型,和骨骼肌同种型由该基因编码。 β亚基是在肌肉和肝同种型都是相同的,并且由一个基因编码。伽马亚基还包括骨骼肌和肝脏同种型,它们由两个不同的基因编码。增量亚基是钙调蛋白,??并且可以通过三种不同的基因编码。伽马亚基含有酶的活性位点,而α和β亚基具有通过磷酸化来控制调节功能。增量亚基介导钙浓度酶的依赖。突变该基因引起型糖原贮积病9D,也称为X-连锁的肌肉糖原分解。编码不同同种型的可变剪接转录物变体在该基因被鉴定。假基因已被发现1号染色体上[由RefSeq的,2010年2月提供]
PHKA1基因(以及对应的蛋白质)的细胞分布位置:
PHKA1基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Glycogen Storage Disease, Type IXD | 0.56 | 1 | 3 | CLINVAR_CTD_human_MGD_ORPHANET_UNIPROT |
Diabetes Mellitus, Experimental | 0.08 | 1 | 0 | RGD |
Hypothyroidism | 0.08 | 1 | 0 | RGD |
Glycogen storage disease, type IX | 0.000814326 | 3 | 0 | BeFree |
Glycogen Storage Disease | 0.000542884 | 2 | 0 | BeFree |
Deficiency of phosphorylase kinase | 0.000542884 | 2 | 0 | BeFree |
Glycogen Storage Disease Type VIII | 0.000271442 | 1 | 0 | BeFree |
Spastic syndrome | 0.000271442 | 1 | 0 | BeFree |
Impaired exercise tolerance | 0.000271442 | 1 | 0 | BeFree |
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