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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H02130 |
Mucolipidosis III Pseudo-Hurler polydystrophy |
... MLIII is caused by the deficiency of GlcNac-1-phosphotransferase, that exists as a heterohexamer comprising three subunits, alpha, beta, and gamma. It is encoded by two distinct genes, GNPTAB and GNPTG. | Inherited metabolic disorder, Lysosomal disease |
(alpha/beta) GNPTAB [HSA:79158] [KO:K08239] (gamma) GNPTG [HSA:84572] [KO:K10087] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |