Recombinant Human N-acetylglucosamine-1-phosphotransferase subunits alpha/beta (GNPTAB), partial

1. The diagnosis of Mucolipidosis II is often missed, as it may present with rickets-like picture. In this article, we describe two neonatal mucolipidosis II patients mimicking rickets, and we evaluated them by clinical, metabolic and imaging findings via literature and also emphasized the difficulties in diagnosis of this rare disease. PMID: 30204966
2. 14 variations were found in GNPTAB, GNPTG and NAGPA genes. PMID: 29289611
3. GNPTAB missense mutations cause loss of GlcNAc-1-phosphotransferase activity in mucolipidosis type II PMID: 28918368
4. GNPTAB mutations are associated with mucolipidosis II. PMID: 27180337
5. Mutations of the GNPTAB gene is associated with mucolipidosis type III. PMID: 27710913
6. 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 of GNPTAB gene in five patients PMID: 26749367
7. Persistent stuttering is associated with mutations in GNPTAB that are generally not found in mucolipidosis . PMID: 26130485
8. These findings serve to explain how GlcNAc-1-phosphotransferase recognizes a large number of proteins that lack a common structural motif. PMID: 26833567
9. 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. PMID: 26385638
10. 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. PMID: 25643770
11. A novel intermediate mucolipidosis II/IIIalphabeta caused by GNPTAB mutation in the cytosolic N-terminal domain. PMID: 24045841
12. novel mouse model of MLII homozygous for a patient mutation in the GNPTAB gene. PMID: 25107912
13. 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 precursor protein are associated with a severe clinical phenotype PMID: 24375680
14. Missense mutations impair retention of the catalytically active enzyme in the Golgi complex resulting in mistargeting of the mutant phosphotransferases to lysosomes, where they are degraded, or to the cell surface and release into the medium. PMID: 24550498
15. 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 PMID: 23773965
16. The DMAP interaction domain of the alpha subunit 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. PMID: 23733939
17. The mutation c.2808A>G creates a new splice site in exon 14 of GNPATB gene. PMID: 23566849
18. 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 complex II machinery PMID: 23192343
19. 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) PMID: 22884963
20. Patients carrying the c.3503_3504delTC deletion in the N-acetylglucosamine-1-phosphotransferase gene are presented with a common haplotype, which implies a common origin of this mutation in the Mediterranian Region. PMID: 20880125
21. 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. PMID: 21549105
22. Glu1200Lys mutation in GNPTAB gene is founder mutation associated with persistent stuttering PMID: 20944643
23. proteolytic processing of the gamma-subunit represents a novel mechanism to regulate GlcNAc-1-phosphotransferase activity and the subsequent sorting of lysosomal enzymes PMID: 20489197
24. identified 3 mutations in GNPTAB gene in subjects with stuttering PMID: 20147709
25. Fifty-one pathogenic changes in GNPTAB are presented, including 42 novel mutations causing mucolipidoses II and III alpha/beta. PMID: 19617216
26. Mutations within the GNPTAB gene are associated with Mucolipidoses. PMID: 19634183
27. The GNPTAB gene was analyzed in 25 Mucolipidosis II and 15 ML III Japanese patients. PMID: 19197337
28. GNPTAB alpha and beta subunits are encoded by a single cDNA PMID: 16120602
29. results provide evidence that GNPTA encodes a subunit of GlcNAc-1-phosphotransferase defective in individuals with mucolipidosis II PMID: 16200072
30. 15 different mutations in GNPTAB from 18 pedigrees with Mucolipidosis II or mucolipidosis IIIA were found. PMID: 16465621
31. The results of this study confirm that Mucolipidosis (ML) II or ML III phenotype is not due to the localization of the mutations, but rather to the severity of the GNPTA mutations PMID: 16630736
32. A single mutation (c.3503_3504delTC) is the allele causing Mucolipidosis II in the Saguenay-Lac-Saint-Jean population, and its high carrier rate is most likely explained by a founder effect. PMID: 18190596
33. The study led to the identification of 11 different mutations in GNPTAB and GNPTG genes in 13 mucolipidosis II and III patients. PMID: 19659762

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HGNC: 29670

OMIM: 252500

KEGG: hsa:79158

STRING: 9606.ENSP00000299314

UniGene: Hs.46850