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GNPTG encodes the gamma sunbunit of the N-acetylglucosamine-1-phosphotransferase complex. Zusätzlich bieten wir Ihnen N-Acetylglucosamine-1-Phosphate Transferase, gamma Subunit Proteine (4) und viele weitere Produktgruppen zu diesem Protein an.
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14 variations were found in GNPTAB (zeige GNPTAB Antikörper), GNPTG and NAGPA (zeige NAGPA Antikörper) genes.
Study identified three novel mutations in GNPTG causing Mucolipidosis type III. Some were associated with severe clinical phenotype with an earlier onset of signs and symptoms and poorer prognosis.
we suggest that GNPTG analysis must be performed on gDNA because of the instability of mRNA containing premature stop codons and the occurrence of mRNA editing. The mRNA editing could play an important role in modulating the association between mutant genotype and clinical phenotype.
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 (zeige POLG Antikörper), which is independent on cysteine 70 identified to be responsible for alpha-subunit (zeige POLG Antikörper) homodimerization.
SNPs covering GNPTAB (zeige GNPTAB Antikörper), GNPTG and NAGPA (zeige NAGPA Antikörper) were subjected to genotyping, association analysis was performed on all SNPs. Significant association of rs17031962 in GNPTAB (zeige GNPTAB Antikörper) and rs882294 in NAGPA (zeige NAGPA Antikörper) 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 (zeige GNPTAB Antikörper), GNPTG, and NAGPA (zeige NAGPA Antikörper) 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 (zeige MMP2 Antikörper) signaling
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