Fabry disease continuation…
What is α-galactosidase A?
-This enzyme is a
homodimeric glycoprotein that hydrolyses the terminal alpha-galactosyl moieties
from glycolipids and glycoproteins.
-The α-galactosidase A gene (GLA)
is located on the X chromosome (Xq21.3–q23/24) spanning 12 kb. It is composed
of 7 exons encoding a 429 amino acid precursor protein that is processed to 370
amino acid glycoprotein that functions as a homodimer.
-Like all enzymes destined for the lysosomes the α-galactosidase
is A protein that is co-translationally modified with mannose-6-phosphate
residues.
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