🧬 基因注释：CPS1

官方名称：carbamoyl-phosphate synthase 1

功能摘要：The mitochondrial enzyme encoded by this gene catalyzes synthesis of carbamoyl phosphate from ammonia and bicarbonate. This reaction is the first committed step of the urea cycle, which is important in the removal of excess urea from cells. The encoded protein may also represent a core mitochondrial nucleoid protein. Three transcript variants encoding different isoforms have been found for this gene. The shortest isoform may not be localized to the mitochondrion. Mutations in this gene have been associated with carbamoyl phosphate synthetase deficiency, susceptibility to persistent pulmonary hypertension, and susceptibility to venoocclusive disease after bone marrow transplantation.[provided by RefSeq, May 2010].

• HNRNPH1 综合评分: 0.474 · 证据 2 条
• HNRNPC 综合评分: 0.350 · 证据 2 条
• HNRNPM 综合评分: 0.350 · 证据 2 条
• TIA1 综合评分: 0.312 · 证据 1 条
• ACIN1 综合评分: 0.310 · 证据 2 条
• FUS 综合评分: 0.300 · 证据 1 条
• HNRNPD 综合评分: 0.300 · 证据 2 条
• HNRNPL 综合评分: 0.300 · 证据 2 条
• HNRNPU 综合评分: 0.300 · 证据 2 条
• PTBP1 综合评分: 0.300 · 证据 2 条
• RBFOX2 综合评分: 0.300 · 证据 2 条
• SRSF2 综合评分: 0.300 · 证据 1 条
• SRSF3 综合评分: 0.300 · 证据 1 条
• SRSF9 综合评分: 0.300 · 证据 1 条
• fus 综合评分: 0.300 · 证据 1 条
• Tardbp 综合评分: 0.274 · 证据 1 条
• PCBP2 综合评分: 0.262 · 证据 1 条
• EWSR1 综合评分: 0.250 · 证据 2 条
• RBM15 综合评分: 0.250 · 证据 2 条
• ELAVL3 综合评分: 0.244 · 证据 1 条

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