Application | Comment | Organism |
---|---|---|
medicine | AAV-mediated expression of gene GNPTAB in mucolipidosis II, ML II, mice can attenuate bone loss via inhibition of IL-6 production | Mus musculus |
Cloned (Comment) | Organism |
---|---|
gene GNTPAB encoding the alpha/beta-subunits, quantitative real-time PCR expression analysis, recombinant expression of nucleotides 8-3715 | Mus musculus |
Protein Variants | Comment | Organism |
---|---|---|
additional information | generation of GNTPAB knock-out mice | Mus musculus |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Mus musculus | Q69ZN6 | gene GNTPAB | - |
Synonyms | Comment | Organism |
---|---|---|
GNTPAB | - |
Mus musculus |
N-acetylglucosamine-1-phosphate transferase | - |
Mus musculus |
General Information | Comment | Organism |
---|---|---|
malfunction | mucolipidoses II and III (ML II and MLIII) are lysosomal disorders in which the mannose 6-phosphate recognition marker is absent from lysosomal hydrolases and other glycoproteins due to mutations in GNPTAB, which encodes two of three subunits of the heterohexameric enzyme, N-acetylglucosamine-1-phosphotransferase. Both disorders are caused by the same gene, but ML II represents the more severe phenotype. Bone manifestations of ML II include hip dysplasia, scoliosis, rickets and osteogenesis imperfecta, phhentype overview. A recombinant adeno-associated viral vector (AAV2/8-GNPTAB) confers high and prolonged gene expression of GNPTAB and thereby influence the pathology in the cartilage and bone tissue of a GNPTAB knock out (KO) mouse model. AAV8-mediated expression of N-acetylglucosamine-1-phosphate transferase attenuates bone loss in a mouse model of mucolipidosis II with significant increases in bone mineral density and content | Mus musculus |