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This gene encodes the delta subunit of rod-specific photoreceptor phosphodiesterase (PDE), a key enzyme in the phototransduction cascade. A similar protein in cow functions in solubilizing membrane-bound PDE. In addition to its role in the PDE complex, the encoded protein is thought to bind to prenyl groups of proteins to target them to subcellular organelles called cilia. Mutations in this gene are associated with Joubert syndrome-22. Alternative splicing results in multiple splice variants. [provided by RefSeq, Mar 2014]
[中文简述(自动翻译):]  该基因编码特异性杆感光磷酸二酯酶(PDE)的增量亚基,在光转导级联的关键酶。类似的蛋白牛职能溶解膜结合的PDE。除了其在PDE复杂的作用,所编码的蛋白质被认为是结合到蛋白质异戊二烯基团将其定位到称为纤毛亚细胞器。在这种基因突变与茹贝尔综合征-22相关联。选择性剪接产生多个剪接变体。 [由RefSeq的,2014年3月提供]
PDE6D基因(以及对应的蛋白质)的细胞分布位置:
PDE6D基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
OROFACIODIGITAL SYNDROME VI | 0.12 | 0 | 0 | ORPHANET |
JOUBERT SYNDROME 22 | 0.12 | 0 | 1 | CLINVAR |
HIV Infections | 0.002171535 | 8 | 0 | BeFree |
Familial aplasia of the vermis | 0.000271442 | 1 | 0 | BeFree |
Idiopathic Pulmonary Fibrosis | 0.000271442 | 1 | 0 | BeFree |
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