High impact information on Pmm2

• In contrast, embryos homozygous for the Pmm2-null allele were recovered in embryonic development at days 2.5 to 3 [1].
• Mutations in the cytosolic enzyme phosphomannomutase 2 (PMM2), which catalyzes the conversion of mannose-6-phosphate to mannose-1-phosphate, cause the most common form of congenital disorders of glycosylation, termed CDG-Ia [1].
• Tissue distribution of the murine phosphomannomutases Pmm1 and Pmm2 during brain development [2].
• Pmm1 maps to mouse chromosome 15, Pmm2 to chromosome 16 [3].
• The Pmm2 gene consists of eight exons and spans a larger genomic region ( approximately 20 kb) [3].

Biological context of Pmm2

• We have previously shown that mutations in the PMM2 gene cause the most frequent type of the congenital disorders of glycosylation, CDG-Ia [3].

Other interactions of Pmm2

• We compared the expression profile of the murine Pmm1 and Pmm2 mRNA and protein in prenatal and postnatal mouse brain at the histological level [2].

References