B3GALNT2
B3GALNT2 is a gene that encodes a member of the glycosyltransferase 31 family. The encoded protein synthesizes galactose-containing glycoconjugates. Mutations in this gene have been associated with a variety of diseases, including muscular dystrophy-dystroglycanopathy type A, 11.
Function[edit | edit source]
The B3GALNT2 gene provides instructions for making an enzyme that is involved in the formation of O-glycans. These complex molecules are made up of various sugars and are attached to proteins to form glycoproteins. The enzyme produced from the B3GALNT2 gene adds a molecule of the sugar galactose to the growing O-glycan structure.
Clinical significance[edit | edit source]
Mutations in the B3GALNT2 gene have been associated with a form of muscular dystrophy known as muscular dystrophy-dystroglycanopathy type A, 11. This condition is characterized by muscle weakness and wasting, as well as brain and eye abnormalities. It is caused by a reduced ability of the B3GALNT2 enzyme to add galactose to O-glycans, which disrupts the normal function of various glycoproteins.
See also[edit | edit source]
References[edit | edit source]
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