Alpha-N-acetylgalactosaminidase is an
enzyme
Enzymes () are proteins that act as biological catalysts by accelerating chemical reactions. The molecules upon which enzymes may act are called substrates, and the enzyme converts the substrates into different molecules known as products. A ...
that in humans is encoded by the ''NAGA''
gene
In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a ba ...
.
NAGA encodes the lysosomal enzyme
alpha-N-acetylgalactosaminidase, which cleaves alpha-N-acetylgalactosaminyl moieties from
glycoconjugates
Glycoconjugates are the classification family for carbohydrates – referred to as glycans – which are covalently linked with chemical species such as proteins, peptides, lipids, and other compounds. Glycoconjugates are formed in processes term ...
. Mutations in NAGA have been identified as the cause of
Schindler disease
Schindler disease, also known as Kanzaki disease and alpha-N-acetylgalactosaminidase deficiency is a rare disease found in humans. This lysosomal storage disorder is caused by a deficiency in the enzyme alpha-NAGA ( alpha-N-acetylgalactosaminidas ...
types I and II (type II also known as
Kanzaki disease Kanzaki may refer to:
Places
*Kanzaki, Saga, a city in Saga Prefecture, Japan
*Kanzaki, Hyōgo, a former town in Kanzaki District, Hyōgo Prefecture, Japan
*Kanzaki District (disambiguation), multiple districts in Japan
*Kanzaki Station (disambigua ...
).
References
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External links
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Human proteins
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