2024年12月25日 · PMM1 (Phosphomannomutase 1) is a Protein Coding gene. Diseases associated with PMM1 include Congenital Disorder Of Glycosylation, Type In and Immunodeficiency 24. Among its related pathways are Synthesis of substrates in N-glycan biosythesis and Metabolism of proteins.

2024年9月18日 · Phosphomannomutase catalyzes the conversion between D-mannose 6-phosphate and D-mannose 1-phosphate which is a substrate for GDP-mannose synthesis. GDP-mannose is used for synthesis of dolichol-phosphate-mannose, which is essential for N-linked glycosylation and thus the secretion of several glycoproteins as well as for the synthesis of ...

2008年12月5日 · Our aim was to test whether Glc-1,6-bisphosphatase corresponds to the phosphomannomutase PMM1, an enzyme of mysterious physiological function sharing several properties with Glc-1,6-bisphosphatase.

Phosphomannomutase 1 is an enzyme that in humans is encoded by the PMM1 gene. [5][6][7] Phosphomannomutase catalyzes the conversion between D-mannose 6-phosphate and D-mannose 1-phosphate which is a substrate for GDP-mannose synthesis.

Involved in the synthesis of the GDP-mannose and dolichol-phosphate-mannose required for a number of critical mannosyl transfer reactions. In addition, may be responsible for the degradation of glucose-1,6-bisphosphate in ischemic brain.

In addition, may be responsible for the degradation of glucose-1,6-bisphosphate in ischemic brain.... show less: Molecular function (UniProt) i

PMM1 has 4,210 functional associations with biological entities spanning 8 categories (molecular profile, organism, chemical, functional term, phrase or reference, disease, phenotype or trait, structural feature, cell line, cell type or tissue, gene, protein or …

2025年2月8日 · PMM1 is responsible for the degradation of Glc-1,6-P(2) in brain Pmm1 immunoreactivity seen in prenatal brain until postnatal and adult stage and restricted in neuronal cell bodies. The normal phenotype of Pmm1-deficient mice suggests that Pmm1 is not essential for normal mouse development.

Mice homozygous for a knock-out allele are viable, fertile and behaviorally normal with no detectable motor dysfunction or histological abnormalities in major organ systems and no evidence of abnormal glycosylation patterns. Click cells to view annotations. GXD's primary emphasis is on endogenous gene expression during development.

Phosphomannomutases (PMMs) catalyze the interconversion of mannose-6-phosphate to mannose-1-phosphate. In humans, two PMM enzymes exist--PMM1 and PMM2; yet, they have different functional specificities. PMM2 presents PMM activity, and its deficiency causes a Congenital Disorder of Glycosylation (PMM …