N-acetylglucosamine-1-phosphate transferase
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.
Function
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.
Clinical significance
It is associated with the following conditions:[1][2]
- mucolipidosis II alpha/beta (I-cell disease) - GNPTAB
- mucolipidosis III alpha/beta (pseudo-Hurler polydystrophy) - GNPTAB
- mucolipidosis III gamma - GNPTG
In melanocytic cells GNPTG gene expression may be regulated by MITF.[3]
References
- ↑ Online Mendelian Inheritance in Man (OMIM) MUCOLIPIDOSIS II ALPHA/BETA -252500
- ↑ Online Mendelian Inheritance in Man (OMIM) MUCOLIPIDOSIS III GAMMA -252605
- ↑ Hoek KS, Schlegel NC, Eichhoff OM, et al. (2008). "Novel MITF targets identified using a two-step DNA microarray strategy". Pigment Cell Melanoma Res. 21 (6): 665–76. doi:10.1111/j.1755-148X.2008.00505.x. PMID 19067971.
External links
- GeneReviews/NCBI/NIH/UW entry on Mucolipidosis III Alpha/Beta
- GeneReviews/NIH/NCBI/UW entry on Mucolipidosis II
- GeneReviews/NIH/NCBI/UW entry on Mucolipidosis III Gamma
- N-acetylglucosamine-1-phosphate transferase at the US National Library of Medicine Medical Subject Headings (MeSH)
- EC 2.7.8.15