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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]
[中文简述(自动翻译):]  这个基因编码两种三个亚基类型的膜结合酶的N-乙酰氨基葡糖-1-磷酸的,两个α??,两个β,和两个伽玛亚基组成的heterohexameric复杂。编码的蛋白质是在Lys928-Asp929键蛋白水解切割产生成熟的α和β多肽而伽马亚基是一个不同的基因(GeneID 84572)的产物。在高尔基体中,heterohexameric络合物催化的对新合成的溶酶体酶的某些寡糖甘露糖-6-磷酸的识别标记的合成的第一步。这些识别标记是对溶酶体酶的适当贩卖必不可少的。在这种基因突变已与两个mucolipidosis II和mucolipidosis IIIA相关联。[通过的RefSeq,2010年5月提供]
GNPTAB基因(以及对应的蛋白质)的细胞分布位置:
GNPTAB基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Pseudo-Hurler Polydystrophy | 0.48 | 8 | 35 | CLINVAR_CTD_human_ORPHANET_UNIPROT |
| MUCOLIPIDOSIS II ALPHA/BETA (disorder) | 0.440542884 | 8 | 99 | BeFree_CLINVAR_CTD_human_MGD_UNIPROT |
| Type II Mucolipidosis | 0.122442977 | 9 | 0 | BeFree_ORPHANET |
| Mucopolysaccharidosis Type IIIA | 0.12 | 0 | 6 | CLINVAR |
| Mucolipidosis III Alpha Beta, Atypical | 0.12 | 0 | 1 | CLINVAR |
| Mucolipidosis 2 | 0.12 | 0 | 0 | ORPHANET |
| Mucolipidoses | 0.017260116 | 10 | 1 | BeFree_GAD_LHGDN |
| Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
| Stuttering | 0.000814326 | 3 | 0 | BeFree |
| Lysosomal Storage Diseases | 0.000814326 | 3 | 0 | BeFree |
| Metabolic Diseases | 0.000271442 | 1 | 0 | BeFree |
| Specific language impairment | 0.000271442 | 1 | 0 | BeFree |
| Dyslexia | 0.000271442 | 1 | 0 | BeFree |
| Developmental reading disorder | 0.000271442 | 1 | 0 | BeFree |
| Mucolipidosis III Gamma | 0.000271442 | 1 | 0 | BeFree |
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