present in Gene: GNPTAB
present in Chromosome: 12
Position on Chromosome: 101770085
Alleles of this Variant: T/C;G
rs137852895 in
GNPTAB gene and
Pseudo-Hurler Polydystrophy
PMID 25505245 2015 Analysis of mucolipidosis II/III GNPTAB missense mutations identifies domains of UDP-GlcNAc:lysosomal enzyme GlcNAc-1-phosphotransferase involved in catalytic function and lysosomal enzyme recognition.
PMID 16094673 2005 Missense mutations in N-acetylglucosamine-1-phosphotransferase alpha/beta subunit gene in a patient with mucolipidosis III and a mild clinical phenotype.
PMID 25788519 2015 Analyses of disease-related GNPTAB mutations define a novel GlcNAc-1-phosphotransferase interaction domain and an alternative site-1 protease cleavage site.
PMID 19634183 2009 Molecular characterization of 22 novel UDP-N-acetylglucosamine-1-phosphate transferase alpha- and beta-subunit (GNPTAB) gene mutations causing mucolipidosis types IIalpha/beta and IIIalpha/beta in 46 patients.
PMID 19938078 2009 Molecular analysis of cell lines from patients with mucolipidosis II and mucolipidosis III.
PMID 19197337 2009 Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation.
PMID 19617216 2010 Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands.
PMID 16465621 2006 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.
PMID 17034777 2007 DNA-based diagnosis of mucolipidosis type IIIA and mucopolysacchariodisis type VI in a Chinese family: a chance of 1 in 7.6 trillion.
PMID 24045841 2014 A novel intermediate mucolipidosis II/IIIαβ caused by GNPTAB mutation in the cytosolic N-terminal domain.
PMID 16630736 2006 When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients.
PMID 24550498 2014 Mislocalization of phosphotransferase as a cause of mucolipidosis III αβ.
PMID 23566849 2013 Mucolipidosis II and III alpha/beta in Brazil: analysis of the GNPTAB gene.
PMID 28918368 2017 GNPTAB missense mutations cause loss of GlcNAc-1-phosphotransferase activity in mucolipidosis type II through distinct mechanisms.
PMID 24375680 2014 Mucolipidosis II-related mutations inhibit the exit from the endoplasmic reticulum and proteolytic cleavage of GlcNAc-1-phosphotransferase precursor protein (GNPTAB).