The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
Use a concentration of 4 µg/ml. Detects a band of approximately 30 kDa (predicted molecular weight: 30 kDa).
Transfers mannose from GDP-mannose to dolichol monophosphate to form dolichol phosphate mannose (Dol-P-Man) which is the mannosyl donor in pathways leading to N-glycosylation, glycosyl phosphatidylinositol membrane anchoring, and O-mannosylation of proteins.
Protein modification; protein glycosylation.
Involvement in disease
Defects in DPM1 are the cause of congenital disorder of glycosylation type 1E (CDG1E) [MIM:608799]. CDGs are metabolic deficiencies in glycoprotein biosynthesis that usually cause severe mental and psychomotor retardation. They are characterized by under-glycosylated serum glycoproteins. CDG1E is an autosomal recessive disorder, characterized by severe developmental delay, hypotnia, seizures, and dysmorphic features.
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Simpkins JA et al. Disruption of a cystine transporter downregulates expression of genes involved in sulfur regulation and cellular respiration. Biol Open5:689-97 (2016).
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