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GNPTAB 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. Additionally we are shipping GNPTAB Antibodies (37) and GNPTAB Proteins (4) and many more products for this protein.
The DMAP interaction domain of the alpha subunit (show POLG ELISA Kits) functions in the selective recognition of acid hydrolase substrates and provides an explanation for the impaired phosphorylation of acid hydrolases in a patient with mucolipidosis II.
GNPTAB mutations are associated with mucolipidosis II.
Mutations of the GNPTAB gene is associated with mucolipidosis type III.
we described five individuals from a large consanguineous Turkish family with MLIIIalpha/beta and identified a novel homozygous missense genetic variant in the alpha subunit (show POLG ELISA Kits) of GNPTAB gene in five patients
Persistent stuttering is associated with mutations in GNPTAB that are generally not found in mucolipidosis .
GlcNAc-1-phosphotransferase gamma (show GNPTG ELISA Kits)-subunits bind to glycosylated region in the no-similarity domain 2 of alpha-subunit (show POLG ELISA Kits), which is independent on cysteine 70 identified to be responsible for alpha-subunit (show POLG ELISA Kits) homodimerization.
SNPs covering GNPTAB, GNPTG (show GNPTG ELISA Kits) and NAGPA (show NAGPA ELISA Kits) were subjected to genotyping, association analysis was performed on all SNPs. Significant association of rs17031962 in GNPTAB and rs882294 in NAGPA (show NAGPA ELISA Kits) with developmental dyslexia in a Chinese population was identified after false discovery rate correction for multiple comparisons.
A novel intermediate mucolipidosis II/IIIalphabeta caused by GNPTAB mutation in the cytosolic N-terminal domain.
novel mouse model of MLII homozygous for a patient mutation in the GNPTAB gene.
both missense and frameshift mutations are associated with a severe clinical phenotype causing retention of the protein in the endoplasmic reticulum and failure to cleave the alpha/beta-subunit (show POLG ELISA Kits) precursor protein are associated with a severe clinical phenotype
study located two homozygous nonsense mutations in the GNPTAB gene, c.1071G>A (p.W357X) and c.1090C>T (p.R364X) in two patients with mucolipidosis II alpha/beta
Retinal degeneration with storage disease phenotype in most exocrine glands in Gnptab null mice
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.
N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
, N-acetylglucosamine-1-phosphotransferase subunits alpha/beta
, stealth protein gnptab
, glcNAc-1-phosphotransferase subunits alpha/beta
, UDP-N-acetylglucosamine-1-phosphotransferase subunits alpha/beta
, N-acetylglucosamine-1-phosphotransferase subunits alpha/beta-like
, n-acetylglucosamine-1-phosphotransferase subunits alpha/beta-like
, GlcNAc phosphotransferase
, UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosamine
, glucosamine (UDP-N-acetyl)-lysosomal-enzyme N-acetylglucosamine phosphotransferase
, stealth protein GNPTAB