Gnptab
收藏rgd.mcw.edu2025-03-23 收录
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资源简介：
Predicted to enable UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity. Acts upstream of or within carbohydrate phosphorylation; establishment of localization in cell; and secretion of lysosomal enzymes. Predicted to be located in Golgi membrane. Predicted to be active in Golgi apparatus. Used to study mucolipidosis II alpha/beta. Human ortholog(s) of this gene implicated in mucolipidosis II alpha/beta and mucolipidosis III alpha/beta. Orthologous to human GNPTAB (N-acetylglucosamine-1-phosphate transferase subunits alpha and beta). [provided by Alliance of Genome Resources, Nov 2024]
预计该基因产物可激活UDP-N-乙酰葡萄糖胺-溶酶体酶N-乙酰葡萄糖胺磷酸转移酶活性。其在碳水化合物磷酸化上游或内部发挥作用；确立细胞内定位；以及分泌溶酶体酶。预计该蛋白定位于高尔基膜上。预计在高尔基体中保持活性。用于研究粘多糖病II型alpha/beta。该基因的人类同源基因与粘多糖病II型alpha/beta和粘多糖病III型alpha/beta有关。与人类GNPTAB（N-乙酰葡萄糖胺-1-磷酸转移酶亚基alpha和beta）同源。[由基因组资源联盟提供，2024年11月]
提供机构：
Rat Genome Database
