Gene: GNPTAB
Alternate names for this Gene: GNPTA|ICD
Gene Summary: This gene encodes two of three subunit types of the membrane-bound enzyme N-acetylglucosamine-1-phosphotransferase, a heterohexameric complex composed of two alpha, two beta, and two gamma subunits. The encoded protein is proteolytically cleaved at the Lys928-Asp929 bond to yield mature alpha and beta polypeptides while the gamma subunits are the product of a distinct gene (GeneID 84572). In the Golgi apparatus, the heterohexameric complex catalyzes the first step in the synthesis of mannose 6-phosphate recognition markers on certain oligosaccharides of newly synthesized lysosomal enzymes. These recognition markers are essential for appropriate trafficking of lysosomal enzymes. Mutations in this gene have been associated with both mucolipidosis II and mucolipidosis IIIA.
Gene is located in Chromosome: 12
Location in Chromosome : 12q23.2
Description of this Gene: N-acetylglucosamine-1-phosphate transferase subunits alpha and beta
Type of Gene: protein-coding
Gene: CHPT1
Alternate names for this Gene: CPT|CPT1
Gene Summary:
Gene is located in Chromosome: 12
Location in Chromosome : 12q23.2
Description of this Gene: choline phosphotransferase 1
Type of Gene: protein-coding
rs35333334 in
GNPTAB;CHPT1 gene and
MUCOLIPIDOSIS II ALPHA/BETA (disorder)
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 16200072 2005 Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase.
PMID 16630736 2006 When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients.
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 27662472 2019 Mutation Analysis of 16 Mucolipidosis II and III Alpha/Beta Chinese Children Revealed Genotype-Phenotype Correlations.
rs35576380 in
GNPTAB;CHPT1 gene and
Mucolipidoses
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.
rs35333334 in
GNPTAB;CHPT1 gene and
Pseudo-Hurler Polydystrophy
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 27662472 2019 Mutation Analysis of 16 Mucolipidosis II and III Alpha/Beta Chinese Children Revealed Genotype-Phenotype Correlations.
PMID 16630736 2006 When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients.
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 16200072 2005 Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase.