Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | Q9BVK2 | - |
- |
Synonyms | Comment | Organism |
---|---|---|
dolichyl-P-glucose:Glc1Man9GlcNAc2-PP-dolichyl alpha3-glucosyltransferase | - |
Homo sapiens |
hALG8p | - |
Homo sapiens |
General Information | Comment | Organism |
---|---|---|
malfunction | patient with inefficient addition of the second glucose residue onto lipid-linked oligosaccharide. The patient possesses only 1020% normal amounts of mRNA encoding the enzyme, dolichyl-P-glucose:Glc1Man9GlcNAc2-PP-dolichyl alpha3-glucosyltransferase (hALG8p), which catalyzes this reaction. Sequencing of hALG8 genomic DNA reveals exon 4 to contain a base deletion in one allele and a base insertion in the other. Both mutations give rise to premature stop codons predicted to generate severely truncated proteins. Because the translation inhibitor emetine is shown to stabilize the hALG8 mRNA from the patient to normal levels, it is likely that both transcripts undergo nonsensemediated mRNA decay. As the cells from the patient are successfully complemented with wild type hALG8 cDNA, it is concluded that these mutations are the underlying cause of this new CDG I subtype that we propose be called CDG Ih | Homo sapiens |