🧬 基因注释：DDC
📝 官方信息
官方名称：dopa decarboxylase
功能摘要：The encoded protein catalyzes the decarboxylation of L-3,4-dihydroxyphenylalanine (DOPA) to dopamine, L-5-hydroxytryptophan to serotonin and L-tryptophan to tryptamine. Defects in this gene are the cause of aromatic L-amino-acid decarboxylase deficiency (AADCD). AADCD deficiency is an inborn error in neurotransmitter metabolism that leads to combined serotonin and catecholamine deficiency. Multiple alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2011].
🎯 作为靶基因的剪接因子
- HNRNPM 综合评分: 0.412 · 证据 2 条
- FUS 综合评分: 0.362 · 证据 1 条
- fus 综合评分: 0.362 · 证据 1 条
- HNRNPC 综合评分: 0.350 · 证据 2 条
- HNRNPU 综合评分: 0.300 · 证据 2 条
- PRPF8 综合评分: 0.262 · 证据 1 条
- Tardbp 综合评分: 0.248 · 证据 1 条
- Srsf3 综合评分: 0.212 · 证据 1 条
- PCBP2 综合评分: 0.200 · 证据 1 条
- Srsf1 综合评分: 0.150 · 证据 1 条
- CSTF2T 综合评分: 0.100 · 证据 2 条
- HNRNPUL1 综合评分: 0.100 · 证据 1 条
- Rbpms 综合评分: 0.100 · 证据 1 条
- U2af2 综合评分: 0.100 · 证据 1 条
🏥 关联疾病
该基因暂无关联疾病记录