🧬 基因注释：GNPTAB

官方名称：N-acetylglucosamine-1-phosphate transferase subunits alpha and beta

功能摘要：This gene encodes two of three subunit types of the membrane-bound enzyme N-acetylglucosamine-1-phosphotransferase, a heterohexameric complex composed of two alpha, two beta, and two gamma subunits. The encoded protein is proteolytically cleaved at the Lys928-Asp929 bond to yield mature alpha and beta polypeptides while the gamma subunits are the product of a distinct gene (GeneID 84572). In the Golgi apparatus, the heterohexameric complex catalyzes the first step in the synthesis of mannose 6-phosphate recognition markers on certain oligosaccharides of newly synthesized lysosomal enzymes. These recognition markers are essential for appropriate trafficking of lysosomal enzymes. Mutations in this gene have been associated with both mucolipidosis II and mucolipidosis IIIA.[provided by RefSeq, May 2010].

• HNRNPC 综合评分: 0.448 · 证据 2 条
• HNRNPA2B1 综合评分: 0.412 · 证据 2 条
• HNRNPL 综合评分: 0.362 · 证据 2 条
• HNRNPM 综合评分: 0.350 · 证据 2 条
• MBNL1 综合评分: 0.350 · 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
• 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
• Tardbp 综合评分: 0.274 · 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
• TIA1 综合评分: 0.250 · 证据 1 条
• UPF1 综合评分: 0.244 · 证据 1 条
• CPSF6 综合评分: 0.212 · 证据 2 条
• Srsf3 综合评分: 0.212 · 证据 1 条

该基因暂无关联疾病记录