🧬 基因注释：GNE

官方名称：glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase

功能摘要：The protein encoded by this gene is a bifunctional enzyme that initiates and regulates the biosynthesis of N-acetylneuraminic acid (NeuAc), a precursor of sialic acids. It is a rate-limiting enzyme in the sialic acid biosynthetic pathway. Sialic acid modification of cell surface molecules is crucial for their function in many biologic processes, including cell adhesion and signal transduction. Differential sialylation of cell surface molecules is also implicated in the tumorigenicity and metastatic behavior of malignant cells. Mutations in this gene are associated with sialuria, autosomal recessive inclusion body myopathy, and Nonaka myopathy. Alternative splicing of this gene results in transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008].

• HNRNPL 综合评分: 0.424 · 证据 2 条
• HNRNPA2B1 综合评分: 0.350 · 证据 2 条
• HNRNPC 综合评分: 0.350 · 证据 2 条
• HNRNPH1 综合评分: 0.350 · 证据 2 条
• FUS 综合评分: 0.300 · 证据 1 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
• fus 综合评分: 0.300 · 证据 1 条
• PRPF8 综合评分: 0.262 · 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
• U2af2 综合评分: 0.224 · 证据 1 条
• Srsf1 综合评分: 0.212 · 证据 1 条
• PCBP2 综合评分: 0.200 · 证据 1 条
• YBX1 综合评分: 0.198 · 证据 1 条
• Rnps1 综合评分: 0.162 · 证据 1 条
• UPF1 综合评分: 0.162 · 证据 1 条
• CSTF2 综合评分: 0.150 · 证据 2 条

该基因暂无关联疾病记录