GNPTAB
MIM.607840 12q23.3
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#