POMT1
Encyclopedia
Protein O-mannosyl-transferase 1 is an enzyme
that in humans is encoded by the POMT1 gene
. It is a member of the dolichyl-phosphate-mannose-protein mannosyltransferase
s.
It is associated with limb-girdle muscular dystrophy
type LGMD2K.
Enzyme
Enzymes are proteins that catalyze chemical reactions. In enzymatic reactions, the molecules at the beginning of the process, called substrates, are converted into different molecules, called products. Almost all chemical reactions in a biological cell need enzymes in order to occur at rates...
that in humans is encoded by the POMT1 gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
. It is a member of the dolichyl-phosphate-mannose-protein mannosyltransferase
Dolichyl-phosphate-mannose-protein mannosyltransferase
In enzymology, a dolichyl-phosphate-mannose-protein mannosyltransferase is an enzyme that catalyzes the chemical reactionThus, the two substrates of this enzyme are dolichyl phosphate D-mannose and protein, whereas its two products are dolichyl phosphate and O-D-mannosylprotein.This enzyme belongs...
s.
Function
O-mannosylation is an important protein modification in eukaryotes that is initiated by an evolutionarily conserved family of protein O-mannosyltransferases. POMT1 shares sequence similarity with protein O-mannosyltransferases of S. cerevisiae. In yeast, these enzymes are located in the endoplasmic reticulum (ER) and are required for cell integrity and cell wall rigidity. POMT1 also shows similarity to the Drosophila 'rotated abdomen' (rt) gene, which when mutated causes defects in myogenesis and muscle structure.[supplied by OMIM]It is associated with limb-girdle muscular dystrophy
Limb-girdle muscular dystrophy
Limb-girdle muscular dystrophy or Erb's muscular dystrophy is an autosomal class of muscular dystrophy that is similar but distinct from Duchenne muscular dystrophy and Becker's muscular dystrophy...
type LGMD2K.