- N-acetylglucosamine-1-phosphate transferase
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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 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
- MeSH N-acetylglucosamine-1-phosphate+transferase
- EC 2.7.8.15
2.7.6: diphosphotransferase
(P2O7)2.7.7: nucleotidyltransferase
(PO4-nucleoside)DNA-directed DNA polymerase: DNA polymerase I · DNA polymerase II · DNA polymerase III holoenzyme
DNA nucleotidylexotransferase/Terminal deoxynucleotidyl transferase
RNA-directed DNA polymerase: Reverse transcriptase (Telomerase)RNA nucleotidyltransferaseRNA polymerase/DNA-directed RNA polymerase: RNA polymerase I · RNA polymerase II · RNA polymerase III · RNA polymerase IV · Primase · RNA-dependent RNA polymerase
PNPaseUridylyltransferaseGlucose-1-phosphate uridylyltransferase · Galactose-1-phosphate uridylyltransferaseGuanylyltransferasemRNA capping enzymeOther2.7.8: miscellaneous PhosphatidyltransferasesCDP-diacylglycerol—glycerol-3-phosphate 3-phosphatidyltransferase · CDP-diacylglycerol—serine O-phosphatidyltransferase · CDP-diacylglycerol—inositol 3-phosphatidyltransferase · CDP-diacylglycerol—choline O-phosphatidyltransferaseGlycosyl-1-phosphotransferaseN-acetylglucosamine-1-phosphate transferase2.7.10-2.7.13: protein kinase
(PO4; protein acceptor)see tyrosine kinasessee serine/threonine-specific protein kinases2.7.12: protein-dual-specificitysee serine/threonine-specific protein kinases2.7.13: protein-histidineAnabolism Catabolism Neuraminidase · Beta-galactosidase · Hexosaminidase · mannosidase (alpha-Mannosidase, beta-mannosidase) · Aspartylglucosaminidase · Fucosidase · NAGATransport M6P tagging N-acetylglucosamine-1-phosphate transferaseCategories:- Genes on chromosome 12
- Genes on chromosome 16
- Enzyme stubs
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