N-acetylglucosamine-1-phosphotransferase

N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
Identifiers
Symbol	GNPTAB
Alt. symbols	GNPTA
Entrez	79158
HUGO	29670
OMIM	607840
RefSeq	NM_024312
UniProt	Q3T906
Other data
Locus	Chr. 12 q23.3

N-acetylglucosamine-1-phosphate transferase, gamma subunit
Identifiers
Symbol	GNPTG
Alt. symbols	GNPTAG
Entrez	84572
HUGO	23026
OMIM	607838
RefSeq	NM_032520
UniProt	Q9UJJ9
Other data
Locus	Chr. 16 p13.3

N-acetylglucosamine-1-phosphate transferase is a transferase enzyme.

It is made up of two alpha (α), two beta (β), and two gamma (γ) subunits. GNPTAB produces the alpha and beta subunits. GlcNAc-1-phosphotransferase functions to prepare newly made enzymes for lysosome transportation (lysosomal hydrolases to the lysosome). Lysosomes, a part of an animal cells, helps break down large molecules into smaller ones that can be reused. GlcNAc-1-phosphotransferase catalyzes the N-linked glycosylation of asparagine residues with a molecule called mannose-6-phosphate (M6P). M6P acts as indicator whether a hydrolase should be transported to the lysosome or not. Once a hydrolase has the indication from an M6P, it can be transported to a lysosome. Surprisingly some lyosomal enzyme are only tagged at a rate of 5% or lower.

It is associated with the following conditions:

In melanocytic cells GNPTG gene expression may be regulated by MITF.

Kang, C., Riazuddin, S., Mundorff, J., Krasnewich, D., Friedman, P., Mullikin, J.C., and Drayna, D. (2010). Mutations in the Lysosomal Enzyme–Targeting Pathway and Persistent Stuttering. New England Journal of Medicine 362, 677-685.

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