PMM2 Human
Description
Product Specs
Product Science Overview
PMM2 belongs to the eukaryotic PMM family and is encoded by the PMM2 gene. Mutations in this gene are associated with Congenital Disorders of Glycosylation (CDG) Type Ia, an autosomal recessive disorder characterized by central nervous system dysfunction and multiorgan failure . PMM2 forms a homodimer and catalyzes the interconversion of mannose-6-phosphate and mannose-1-phosphate (EC 5.4.2.8) .
Recombinant human PMM2 protein is produced using Escherichia coli (E. coli) as the expression system. The recombinant protein is fused to a His-tag at the N-terminus and purified using conventional chromatography techniques . The molecular weight of the recombinant PMM2 protein is approximately 30.2 kDa .
Recombinant human PMM2 is primarily used for research purposes. It is not intended or approved for human, diagnostic, or veterinary use . The protein is typically stored in a buffer containing Tris-HCl, glycerol, DTT, and NaCl, and can be stored at +2°C to +8°C for short-term use or at -20°C to -80°C for long-term storage .
Research on PMM2 has significant implications for understanding and potentially treating CDG Type Ia. Experimental evolution studies in yeast models have shown that compensatory mutations can restore protein glycosylation and growth in yeast harboring human-disease-associated alleles . These findings highlight the potential for experimental evolution as a tool for identifying genes and pathways that compensate for human-disease-associated alleles .
