更多...
收起
This gene encodes the cyclic-GMP (cGMP)-specific phosphodiesterase 6A alpha subunit, expressed in cells of the retinal rod outer segment. The phosphodiesterase 6 holoenzyme is a heterotrimer composed of an alpha, beta, and two gamma subunits. cGMP is an important regulator of rod cell membrane current, and its dynamic concentration is established by phosphodiesterase 6A cGMP hydrolysis and guanylate cyclase cGMP synthesis. The protein is a subunit of a key phototransduction enzyme and participates in processes of transmission and amplification of the visual signal. Mutations in this gene have been identified as one cause of autosomal recessive retinitis pigmentosa. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  该基因编码的环状GMP(cGMP)的特异性磷酸二酯酶6Aα亚基,在视网膜杆细胞外段的细胞中表达。磷酸二酯酶6全酶是一种α,β-,和两个伽玛亚基组成的异源。 cGMP的是杆细胞膜电流的重要调节剂,和它的动态浓度是通过磷酸二6A的cGMP水解和鸟苷酸环化酶的cGMP合成确立。蛋白质是关键光转导酶的一个亚基,并在视频信号的传输和放大的过程参与。在这个基因的突变已被确定为常染色体隐性色素性视网膜炎的原因之一。 [由RefSeq的,2008年7月提供]
PDE6A基因(以及对应的蛋白质)的细胞分布位置:
PDE6A基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Retinitis Pigmentosa | 0.325276948 | 6 | 0 | BeFree_CTD_human_GAD_MGD_ORPHANET |
| RETINITIS PIGMENTOSA 43 | 0.24 | 2 | 6 | CLINVAR_UNIPROT |
| Retinal Diseases | 0.002367032 | 1 | 0 | GAD |
忘记密码? 点击找回密码.
扫一扫右方二维码,关注微信订阅号,实时查看信息,关注医学生物学动态。