🧬 基因注释：PADI2
官方名称：peptidyl arginine deiminase 2
功能摘要：This gene encodes a member of the peptidyl arginine deiminase family of enzymes, which catalyze the post-translational deimination of proteins by converting arginine residues into citrullines in the presence of calcium ions. The family members have distinct substrate specificities and tissue-specific expression patterns. The type II enzyme is the most widely expressed family member. Known substrates for this enzyme include myelin basic protein in the central nervous system and vimentin in skeletal muscle and macrophages. This enzyme is thought to play a role in the onset and progression of neurodegenerative human disorders, including Alzheimer disease and multiple sclerosis, and it has also been implicated in glaucoma pathogenesis. This gene exists in a cluster with four other paralogous genes. [provided by RefSeq, Jul 2008].
- RBFOX2 综合评分: 0.362 · 证据 2 条
- FUS 综合评分: 0.300 · 证据 1 条
- SRSF3 综合评分: 0.300 · 证据 1 条
- fus 综合评分: 0.300 · 证据 1 条
- MBNL2 综合评分: 0.262 · 证据 1 条
- ELAVL3 综合评分: 0.244 · 证据 1 条
- MSI1 综合评分: 0.212 · 证据 1 条
- Tardbp 综合评分: 0.212 · 证据 1 条
- U2af1 综合评分: 0.212 · 证据 1 条
- Rbpms 综合评分: 0.162 · 证据 1 条
- CPSF6 综合评分: 0.150 · 证据 2 条
- CPSF2 综合评分: 0.100 · 证据 1 条
该基因暂无关联疾病记录