🧬 基因注释：PYROXD1

官方名称：pyridine nucleotide-disulphide oxidoreductase domain 1

功能摘要：This gene encodes a nuclear-cytoplasmic pyridine nucleotide-disulphide reductase (PNDR). PNDRs are flavoproteins that catalyze the pyridine nucleotide-dependent reduction of thiol residues in other proteins. The encoded protein belongs to the class I pyridine nucleotide-disulphide oxidoreductase family but lacks the C-terminal dimerization domain found in other family members and instead has a C-terminal nitrile reductase domain. It localizes to the nucleus and to striated sarcomeric compartments. Naturally occurring mutations in this gene cause early-onset myopathy with internalized nuclei and myofibrillar disorganization. A pseudogene of this gene has been defined on chromosome 11. [provided by RefSeq, Apr 2017].

• HNRNPM 综合评分: 0.412 · 证据 2 条
• HNRNPA2B1 综合评分: 0.350 · 证据 2 条
• HNRNPF 综合评分: 0.350 · 证据 2 条
• FUS 综合评分: 0.300 · 证据 1 条
• HNRNPL 综合评分: 0.300 · 证据 2 条
• HNRNPU 综合评分: 0.300 · 证据 2 条
• fus 综合评分: 0.300 · 证据 1 条
• EWSR1 综合评分: 0.250 · 证据 2 条
• RBM10 综合评分: 0.250 · 证据 2 条
• RBM15 综合评分: 0.250 · 证据 2 条
• Srsf3 综合评分: 0.212 · 证据 1 条
• U2af2 综合评分: 0.198 · 证据 1 条
• Rbmx 综合评分: 0.162 · 证据 1 条
• CSTF2 综合评分: 0.150 · 证据 2 条
• Tardbp 综合评分: 0.150 · 证据 1 条
• U2af1 综合评分: 0.150 · 证据 1 条
• CSTF2T 综合评分: 0.100 · 证据 2 条
• NXF1 综合评分: 0.100 · 证据 1 条
• RBM20 综合评分: 0.100 · 证据 2 条
• Rbm7 综合评分: 0.100 · 证据 1 条

该基因暂无关联疾病记录