Article
The normal phenotype of Pmm1-deficient mice suggests that Pmm1 is not essential for normal mouse development.
Molecular and cellular biology - 1 Aug 2006
Cromphout K, Vleugels W, Heykants L, Schollen E, Keldermans L, Sciot R, D'Hooge R, De Deyn P P, von Figura K, Hartmann D, Körner C, Matthijs G
Abstract excerpt
Phosphomannomutases (PMMs) are crucial for the glycosylation of glycoproteins. In humans, two highly conserved PMMs exist: PMM1 and PMM2. In vitro both enzymes are able to convert mannose-6-phosphate (mannose-6-P) into mannose-1-P, the key starting compound for glycan biosynthesis. However, only mutations causing a deficiency in PMM2 cause hypoglycosylation, leading to the most frequent type of the congenital...
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