基因注释：MRPL40

官方名称：mitochondrial ribosomal protein L40

功能摘要：Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Deletions in this gene may contribute to the etiology of velo-cardio-facial syndrome and DiGeorge syndrome. [provided by RefSeq, Jul 2008].

• RBFOX2 综合评分: 0.424 · 证据 2 条
• HNRNPA2B1 综合评分: 0.350 · 证据 2 条
• SRSF3 综合评分: 0.300 · 证据 1 条
• PCBP2 综合评分: 0.262 · 证据 1 条
• RBM15 综合评分: 0.250 · 证据 2 条
• CPSF6 综合评分: 0.212 · 证据 2 条
• PRPF8 综合评分: 0.200 · 证据 1 条
• Rbmx 综合评分: 0.162 · 证据 1 条
• AQR 综合评分: 0.150 · 证据 1 条
• CPSF7 综合评分: 0.150 · 证据 2 条
• GRSF1 综合评分: 0.150 · 证据 2 条
• PABPC4 综合评分: 0.150 · 证据 2 条
• Srsf1 综合评分: 0.150 · 证据 1 条
• Srsf4 综合评分: 0.150 · 证据 1 条
• Tardbp 综合评分: 0.150 · 证据 1 条
• CPSF1 综合评分: 0.100 · 证据 1 条
• CSTF2T 综合评分: 0.100 · 证据 2 条
• Rbm7 综合评分: 0.100 · 证据 1 条
• Srsf7 综合评分: 0.100 · 证据 1 条
• YBX1 综合评分: 0.100 · 证据 1 条

该基因暂无关联疾病记录