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GNPTG encodes the gamma sunbunit of the N-acetylglucosamine-1-phosphotransferase complex. Additionally we are shipping N-Acetylglucosamine-1-Phosphate Transferase, gamma Subunit Antibodies (26) and many more products for this protein.
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persistent stuttering is associated with mutations in GNPTG that are generally not found in mucolipidosis.
GlcNAc-1-phosphotransferase gamma-subunits bind to glycosylated region in the no-similarity domain 2 of alpha-subunit (show POLG Proteins), which is independent on cysteine 70 identified to be responsible for alpha-subunit (show POLG Proteins) homodimerization.
SNPs covering GNPTAB (show GNPTAB Proteins), GNPTG and NAGPA (show NAGPA Proteins) were subjected to genotyping, association analysis was performed on all SNPs. Significant association of rs17031962 in GNPTAB (show GNPTAB Proteins) and rs882294 in NAGPA (show NAGPA Proteins) with developmental dyslexia in a Chinese population was identified after false discovery rate correction for multiple comparisons.
findings expand the mutation spectrum of the GNPTG gene in Mucolipidosis type III gamma (three novel mutations were identified)
To date mutations in GNPTAB (show GNPTAB Proteins), GNPTG, and NAGPA (show NAGPA Proteins) have been associated with stuttering. These genes encode the lysosomal enzyme targeting pathway, defective in mucolipidosis. (Review)
two novel heterozygous mutations in GNPTG, including a splice site mutation and a 1-bp deletion in a Chinese family with mucolipidosis type III gamma.
results suggest that PRL-3's roles in motility, invasion, and metastasis in colon cancer are critically controlled by the integrin beta1-ERK1/2-MMP2 (show MMP2 Proteins) signaling
identified mutations in GNPTG gene in subjects with stuttering
The mutational spectrum of the GNPTG gene is strongly influenced by the properties of the local DNA sequence environment.
The study led to the identification of 11 different mutations in GNPTAB (show GNPTAB Proteins) and GNPTG genes in 13 mucolipidosis II and III patients.
This gene encodes the gamma sunbunit of the N-acetylglucosamine-1-phosphotransferase complex. This hexameric complex, composed of alpha, beta and gamma subunits, catalyzes the first step in synthesis of a mannose 6-phosphate lysosomal recognition marker. This enzyme complex is necessary for targeting of lysosomal hydrolases to the lysosome. Mutations in the gene encoding the gamma subunit have been associated with mucolipidosis IIIC, also known as mucolipidosis III gamma.
N-acetylglucosamine-1-phosphotransferase subunit gamma
, UDP-N-acetylglucosamine-1-phosphotransferase subunit gamma
, glcNAc-1-phosphotransferase subunit gamma
, N-acetylglucosamine-1-phosphotransferase, gamma subunit
, M6PR domain containing protein 1
, M6PR domain-containing protein 1
, T-complex expressed 7
, mannose-6-phosphate receptor domain