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Browse result for Pseudo-hurler polydystrophy

※ introduction

    Pseudo-Hurler polydystrophy, also referred to as mucolipidosis III (ML III), is a lysosomal storage disease closely related to I-cell disease (ML II).[2] This disorder is called Pseudo-Hurler because it resembles a mild form of Hurler syndrome, one of the mucopolysaccharide (MPS) diseases.

Reference
Wiki: Pseudo-hurler polydystrophy



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD07353Q3T90679158
GNPTAB
N-acetylglucosamine-1-phosphotransferase subunits alpha/beta [Cleaved into: N-acetylglucosamine-1-phosphotransferase subunit alpha; N-acetylglucosamine-1-phosphotransferase subunit beta]
Homo sapiens