N-Acetylglucosamine-1-Phosphate Transferase, gamma Subunit 蛋白 (GNPTG)

GNPTG encodes the gamma sunbunit of the N-acetylglucosamine-1-phosphotransferase complex. 再加上,我们可以发N-Acetylglucosamine-1-Phosphate Transferase, gamma Subunit 抗体 (27)和数多这个蛋白质的别的产品。

列出全部蛋白 基因 基因ID UniProt
GNPTG 84572 Q9UJJ9
大鼠 GNPTG GNPTG 287134  
GNPTG 214505 Q6S5C2
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Insect Cells His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Log in to see 50 Days
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GNPTG 蛋白 by Origin and Source

Origin 在表达 标记
Human , ,
, ,
Mouse (Murine)

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Human N-Acetylglucosamine-1-Phosphate Transferase, gamma Subunit (GNPTG) interaction partners

  1. Whole exome sequencing found an insertion mutation c.478_479insTAGG in GNTPG, which cosegregated with the Mucolipidosis III Gamma disease phenotype in the family.

  2. 14 variations were found in GNPTAB, GNPTG and NAGPA genes.

  3. 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.

  4. Analysis of the missense mutations in the gamma subunit of GlcNAc-1-phosphotransferase reported in patients with mucolipidosis III gamma shows that three of the four variants, p.G106S, p.G126S and p.C142Y, caused misfolding of the gamma subunit, while one variant, p.T286M, was normal. The misfolded gamma subunits were retained in the endoplasmic reticulum and failed to rescue the lysosomal targeting of lysosomal acid g...

  5. 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.

  6. persistent stuttering is associated with mutations in GNPTG that are generally not found in mucolipidosis.

  7. GlcNAc-1-phosphotransferase gamma-subunits bind to glycosylated region in the no-similarity domain 2 of alpha-subunit, which is independent on cysteine 70 identified to be responsible for alpha-subunit homodimerization.

  8. SNPs covering GNPTAB, GNPTG and NAGPA were subjected to genotyping, association analysis was performed on all SNPs. Significant association of rs17031962 in GNPTAB and rs882294 in NAGPA with developmental dyslexia in a Chinese population was identified after false discovery rate correction for multiple comparisons.

  9. findings expand the mutation spectrum of the GNPTG gene in Mucolipidosis type III gamma (three novel mutations were identified)

  10. To date mutations in GNPTAB, GNPTG, and NAGPA have been associated with stuttering. These genes encode the lysosomal enzyme targeting pathway, defective in mucolipidosis. (Review)

  11. 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.

  12. 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 signaling

  13. identified mutations in GNPTG gene in subjects with stuttering

  14. analysis of functional differences in alpha, beta, and gamma subunits of UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase

  15. The mutational spectrum of the GNPTG gene is strongly influenced by the properties of the local DNA sequence environment.

  16. The study led to the identification of 11 different mutations in GNPTAB and GNPTG genes in 13 mucolipidosis II and III patients.

  17. novel mutation identified in GNPTG in mucolipidosis type III gamma resulting in truncated but stable gamma-subunit;gamma subunit appears to be involved in regulation of GlcNAc-1-phosphotransferase activity rather than general binding of lysosomal enzymes

Cow (Bovine) N-Acetylglucosamine-1-Phosphate Transferase, gamma Subunit (GNPTG) interaction partners

  1. analysis of functional differences in alpha, beta, and gamma subunits of UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase

Mouse (Murine) N-Acetylglucosamine-1-Phosphate Transferase, gamma Subunit (GNPTG) interaction partners

  1. analysis of functional differences in alpha, beta, and gamma subunits of UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase

蛋白简介N-Acetylglucosamine-1-Phosphate Transferase, gamma Subunit (GNPTG)

蛋白简介

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.

Gene names and symbols associated with GNPTG

  • N-acetylglucosamine-1-phosphate transferase gamma subunit (GNPTG)
  • N-acetylglucosamine-1-phosphate transferase, gamma subunit (Gnptg)
  • N-acetylglucosamine-1-phosphate transferase, gamma subunit (GNPTG)
  • N-acetylglucosamine-1-phosphotransferase, gamma subunit (Gnptg)
  • 6430527N14Rik 蛋白
  • A830081F19 蛋白
  • AU067667 蛋白
  • AU067744 蛋白
  • C16orf27 蛋白
  • Gnptag 蛋白
  • LP2537 蛋白
  • Mdcp1 蛋白
  • RJD9 蛋白
  • Tce7 蛋白

Protein level used designations for GNPTG

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

GENE ID SPECIES
84572 Homo sapiens
287134 Rattus norvegicus
508713 Bos taurus
490078 Canis lupus familiaris
214505 Mus musculus
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