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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 Proteins (4) and many more products for this protein.
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The DMAP interaction domain of the alpha subunit (show POLG Antibodies) 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.
GlcNAc-1-phosphotransferase gamma (show GNPTG Antibodies)-subunits bind to glycosylated region in the no-similarity domain 2 of alpha-subunit (show POLG Antibodies), which is independent on cysteine 70 identified to be responsible for alpha-subunit (show POLG Antibodies) homodimerization.
SNPs covering GNPTAB, GNPTG (show GNPTG Antibodies) and NAGPA (show NAGPA Antibodies) were subjected to genotyping, association analysis was performed on all SNPs. Significant association of rs17031962 in GNPTAB and rs882294 in NAGPA (show NAGPA Antibodies) 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 Antibodies) 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
data suggest that the oligomeric type III membrane protein PT complex requires a combinatorial sorting motif that forms a tertiary epitope to be recognized by distinct sites within the coat protein (show GOLPH3 Antibodies) complex II machinery
To date mutations in GNPTAB, GNPTG (show GNPTG Antibodies), and NAGPA (show NAGPA Antibodies) have been associated with stuttering. These genes encode the lysosomal enzyme targeting pathway, defective in mucolipidosis. (Review)
By using linkage and mutational analyses, there have identified that the family members contain compound heterozygous mutations of p.R364X and c.2715+1G>A in the GNPTAB gene.
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