🧬 基因注释：NAGPA

官方名称：N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase

功能摘要：Hydrolases are transported to lysosomes after binding to mannose 6-phosphate receptors in the trans-Golgi network. This gene encodes the enzyme that catalyzes the second step in the formation of the mannose 6-phosphate recognition marker on lysosomal hydrolases. Commonly known as 'uncovering enzyme' or UCE, this enzyme removes N-acetyl-D-glucosamine (GlcNAc) residues from GlcNAc-alpha-P-mannose moieties and thereby produces the recognition marker. The encoded preproprotein is proteolytically processed by furin to generate the mature enzyme, a homotetramer of two disulfide-linked homodimers. Mutations in this gene are associated with developmental stuttering in human patients. [provided by RefSeq, Oct 2015].

• HNRNPK 综合评分: 0.362 · 证据 2 条
• HNRNPC 综合评分: 0.350 · 证据 2 条
• HNRNPU 综合评分: 0.300 · 证据 2 条
• SRSF9 综合评分: 0.300 · 证据 1 条
• PRPF8 综合评分: 0.262 · 证据 1 条
• RBM15 综合评分: 0.250 · 证据 2 条
• UPF1 综合评分: 0.224 · 证据 1 条
• PRPF4 综合评分: 0.212 · 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
• SF3A3 综合评分: 0.200 · 证据 1 条
• Rnps1 综合评分: 0.198 · 证据 1 条
• NXF1 综合评分: 0.162 · 证据 1 条
• AQR 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
• Rbmx 综合评分: 0.100 · 证据 1 条
• SMNDC1 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