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NAGA N-acetylgalactosaminidase, alpha-

Also known as: GALB; D22S674

Summary

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]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Kanzaki disease
MedGen: C1836522OMIM: 609242GeneReviews: Not available
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Schindler disease, type 1
MedGen: C1836544OMIM: 609241GeneReviews: Not available
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Genomic context

Location:
22q11
Sequence:
Chromosome: 22; NC_000022.11 (42058334..42070871, complement)
Total number of exons:
9

Links

  • BioSystems
    BioSystems
  • ClinVar
    Related medical variations
  • dbVar
    Link from Gene to dbVar
  • MedGen
    Related information in MedGen
  • NAGA database
  • OMIM
    Links between OMIM and Gene are calculated by Gene based on MIM numbers included in the summary and phenotype sections of the Gene record.
  • PubMed (OMIM)
    Links are provided when Gene has a link to a record in OMIM, and OMIM explicitly cites these publications in PubMed.
  • RefSeq RNAs
    Link to Nucleotide RefSeq RNAs
  • RefSeqGene
    Link to Nucleotide RefSeqGenes
  • SNP: GeneView
    SNPs linked from GeneView

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