UDP-N-acetylglucosamine:lysosomal-enzyme N-acetylglucosamine-1-phosphotransferase (GlcNAc-phosphotransferase) catalyzes the initial step in the synthesis of the mannose 6-phosphate determinant required for efficient intracellular targeting of newly synthesized lysosomal hydrolases to the lysosome.

GlcNAc-phosphotransferase is an alpha-2/beta-2/gamma-2 hexameric complex.

Pathology

 germline mutations in

• mucolipidosis type II (I-Cell Disease) (MIM.252500)
• mucolipidosis type IIIa (Classical Pseudo-Hurler Polydystrophy) (MIM.252600)

References

 Kudo M, Brem MS, Canfield WM. Mucolipidosis II (I-Cell Disease) and Mucolipidosis IIIA (Classical Pseudo-Hurler Polydystrophy) Are Caused by Mutations in the GlcNAc-Phosphotransferase alpha / beta -Subunits Precursor Gene. Am J Hum Genet. 2006 Mar;78(3):451-63. PMID: #16465621#