Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
貨期:
Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
用途:
For Research Use Only. Not for use in diagnostic or therapeutic procedures.
Catalyzes the transfer of mannose from Dol-P-Man to lipid-linked oligosaccharides.
基因功能參考文獻(xiàn):
ALG9 is upregulated in peripheral blood mononuclear cells of galactosaemia patients. PMID: 26733289
Our study shows that some pathogenic variants in ALG9 can present as a lethal skeletal dysplasia with visceral malformations as the most severe phenotype PMID: 25966638
Due to the ALG9 deficiency, cells accumulated the lipid-linked oligosaccharides Man(6)GlcNAc(2)-PP-dolichol and Man(8)GlcNAc(2)-PP-dolichol. PMID: 19451548
相關(guān)疾?。?/div>
Congenital disorder of glycosylation 1L (CDG1L); Gillessen-Kaesbach-Nishimura syndrome (GIKANIS)