Recombinant Human Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 (POMGNT1), partial

1. These findings demonstrate that PomGnT1 might be a new focus of glioblastoma (GBM)research for treatment of recurrent Temozolomide -resistant GBM PMID: 29048655
2. The authors have identified a novel mutation in POMGNT1 that causes nonsyndromic autosomal recessive retinitis pigmentosa, adding to the genetic heterogeneity of this retinal disease. PMID: 27391550
3. Study identified recessive POMGNT1 mutations in three unrelated non-syndromic retinitis pigmentosa families showing significant impaired POMGNT1 enzymatic activity. PMID: 26908613
4. When association tests were applied to data from the Diabetes Heart Study, it found exome variants of POMGNT1 and JAK1 genes were associated with type 2 diabetes. PMID: 26783077
5. POMGNT1 Is Glycosylated by Mucin-Type O-Glycans PMID: 26328495
6. study presents clinical, neuroradiological, and POMGNT1 findings in 12 muscle-eye-brain disease patients of Turkish origin from 10 families; suggests a genotype-phenotype correlation PMID: 24731844
7. Data indicate that Golgi phosphoprotein 3 (GOLPH3) binds to and controls the Golgi localization of protein O-linked mannose beta-1,2-N-acetlyglucosaminyltransferase 1 (POMGnT1). PMID: 24733390
8. Identification of novel POMGnT1 mutations in Chinese patients with muscle-eye-brain disease. PMID: 23689641
9. POMGnT1 point mutations and protein expression are associated with variably severe muscle-eye-brain disease showing that severity of the phenotype does not correlate with protein expression. PMID: 22554691
10. Promoter alteration causes transcriptional repression of the POMGNT1 gene in limb-girdle muscular dystrophy type 2O. PMID: 22419172
11. This study demonistreated that Intragenic rearrangements in POMGNT1 gene in muscle-eye-brain disease. PMID: 21727005
12. these results show that the amino acid sequence affects POMGnT1 activity. PMID: 21684258
13. This study gives a comprehensive biochemical evaluation of all clinically relevant POMGnT1 point mutations known to date, which have been linked to muscle-eye-brain disease or similar conditions. PMID: 21361872
14. the function of the gene products is only known for POMT1, POMT2, and POMGnT1, all responsible for the O-mannosylglycan biosynthesis PMID: 20816175
15. Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts, unlinked to the MEB locus, in three Tunisian patients PMID: 12467726
16. Loss-of-function of an N-acetylglucosaminyltransferase, POMGnT1, in muscle-eye-brain disease. 13 mutations have been identified in patients with MEB. The mutant POMGnT1s were expressed and none had any activity. PMID: 12788071
17. Results describe the identification of a novel O-linked mannose beta1,2-N-acetylglucosaminyltransferase (POMGnT1) gene missense mutation in muscle-eye-brain disease. PMID: 15236414
18. DNA mutational analysis and phenotypes in patients with muscle-eye-brain disease PMID: 15466003
19. Our results suggest that PomGnT1, enzymes involved in the O-mannosyl glycosylation pathway, play an active role in modulating integrin and laminin-dependent adhesion and migration of human neuronal cells. PMID: 16857188
20. In conclusion, the lymphoblast-based enzymatic assay is a sensitive and useful method (i) to select patients harbouring POMGNT1, POMT1 or POMT2 mutations; (ii) to assess the pathogenicity of new or already described mutations. PMID: 17869517
21. report on two Turkish siblings with a homozygous mutation in the POMGnT1 gene; a 6-year-old sibling has a severe form of muscle-eye-brain (MEB) disease; the same mutation resulted in a less severe form of MEB in the older sibling PMID: 17881266
22. data suggest mutational hotspots within the minimal catalytic domain at arginine residue 442 (exon 16) and in intron 17 PMID: 17906881

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HGNC: 19139

OMIM: 253280

KEGG: hsa:55624

STRING: 9606.ENSP00000361052

UniGene: Hs.525134