The NAGA gene (NAGA stands for: alpha-N-acetylgalactosaminidase) is a protein-coding gene located on chromosome 22q13.2. The NAGA gene codes for the lysosomal enzyme alpha-N-acetylgalactosaminidase, which cleaves alpha-N-acetylgalactosaminyl moieties from glycolysed conjugates.
NAGA gene
DefinitionThis section has been translated automatically.
Clinical featuresThis section has been translated automatically.
Mutations in NAGA have been identified as the cause of Schindler disease types I and II (type II is also known as Kanzaki disease). Schindler's disease is a rare, autosomal recessive lysosomal storage disorder caused by a deficiency in alpha-N-acetylgalactosaminidase (α-NAGA) activity due to defects in the NAGA gene.
The first patient with this autosomal recessive disorder, a 46-year-old Japanese woman, showed diffuse angiokeratoma, mild intellectual impairment and peripheral neuroaxonal degeneration. Transient expression of an alpha-GalNAc construct containing the R329W mutation resulted in the expression of an immunoreactive polypeptide that has no detectable alpha-GalNAc activity. Its accumulation leads to clinically heterogeneous symptoms ranging from asymptomatic individuals to individuals with severe neurological manifestations (syn. Kanzaki disease/Wang AM et al. 1994).
LiteratureThis section has been translated automatically.
- Kanzaki T. (1995) Schindler disease/Kanzaki disease. Nihon Rinsho 53:2982-2987
- Mohamed FE et al. (2020) A Novel Homozygous Missense Variant in the NAGA Gene with Extreme Intrafamilial Phenotypic Heterogeneity. J Mol Neurosci 70:45-55.
- Wang AM et al. (1994) The molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes angiokeratoma corporis diffusum with glycopeptiduria. J Clin Invest 94:839-845.