GNPTAB : N-acetylglucosamine-1-phosphate transferase subunits alpha and beta

Description

GNPTAB, encodes the alpha/beta subunit of the GlcNAc-1-phosphotransferase (GNPTAB) enzyme. This enzyme plays a critical role in the lysosomal pathway, specifically in the phosphorylation of mannose residues on N-linked glycans. This modification, known as mannose-6-phosphate (M6P) glycosylation, acts as a ‘postal code‘ directing lysosomal hydrolases to their proper destination. GNPTAB deficiency disrupts this crucial process, leading to the accumulation of undigested substrates within lysosomes, ultimately causing a variety of cellular and organ dysfunction.

Associated Diseases

• Mucolipidosis II (I-cell disease)
• Mucolipidosis IIIA
• Mucolipidosis IIIB
• Pseudo-Hurler polydystrophy
• Inclusion cell disease

Did you know?

GNPTAB deficiency is a rare genetic disorder, but it can have severe consequences. Individuals with I-cell disease, for example, often exhibit skeletal abnormalities, coarse facial features, and severe cognitive impairments.