该基因编码圆锥磷酸二酯酶的α-原亚单位,由两个α-原亚单位的同二聚体和3个11、13和15kDa的小蛋白组成该基因突变与4型锥体营养不良(COD4)有关[由RefSeq提供,2010年3月]
This gene encodes the alpha-prime subunit of cone phosphodiesterase, which is composed of a homodimer of two alpha-prime subunits and 3 smaller proteins of 11, 13, and 15 kDa. Mutations in this gene are associated with cone dystrophy type 4 (COD4). [provided by RefSeq, Mar 2010]
基因名: | PDE6C |
别名: | COD4,ACHM5,PDEA2 |
基因ID: | 5146 |
Chromosome: (GRCh37) | 10 Start: 95372345 End: 95425430 Strand: |
信号通路: |