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PMM2
Phosphomannomutase
2
is an
enzyme
that in
humans
is
encoded
by the
PMM2
gene
.
Function
Phosphomannomutase 2
catalyzes
the
isomerization
of
mannose 6-phosphate
to
mannose 1-phosphate
.
Mannose 1-phosphate
is a
precursor
to
GDP-mannose
necessary
for the
synthesis
of dolichol-P-oligosaccharides.
Mutations
in the gene have been
shown
to
cause
defects
in the
protein
glycosylation
pathway
which
manifest
as
congenital disorder of glycosylation
type
Ia
.