NAGA

Chr 22

alpha-N-acetylgalactosaminidase

Also known as: D22S674, GALB

NCBI Gene: 4668 ENSG00000198951 UniProt: P17050

The protein removes terminal alpha-N-acetylgalactosamine residues from glycolipids and glycopeptides in lysosomes, functioning as a critical enzyme for glycolipid breakdown. Mutations cause Schindler disease (types I, II, and III) and Kanzaki disease, with type I presenting as severe infantile neuroaxonal dystrophy and type II (Kanzaki disease) manifesting as a milder adult-onset angiokeratoma disorder. These conditions follow autosomal recessive inheritance.

ResearchSummary from RefSeq, OMIM, UniProt

NAGA encodes the lysosomal enzyme alpha-N-acetylgalactosaminidase, which cleaves alpha-N-acetylgalactosaminyl moieties from glycoconjugates. Mutations in NAGA have been identified as the cause of Schindler disease types I and II (type II also known as Kanzaki disease). [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtSchindler disease

UniProtKanzaki disease

Clinical highlights

Gene-disease validity (ClinGen)

alpha-N-acetylgalactosaminidase deficiency · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.30

LOEUF

LOF

Mechanism· G2P

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