NAGA alpha-N-acetylgalactosaminidase
Gene ID: 4668, updated on 17-Sep-2024Gene type: protein coding
Also known as: GALB; D22S674
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- Go to complete Gene record for NAGA
- Go to Variation Viewer for NAGA variants
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
Description | Tests |
---|---|
Alpha-N-acetylgalactosaminidase deficiency type 1 | not available |
Alpha-N-acetylgalactosaminidase deficiency type 2 | not available |
Biological insights from 108 schizophrenia-associated genetic loci. GeneReviews: Not available |
Genomic context
- Location:
- 22q13.2
- Sequence:
- Chromosome: 22; NC_000022.11 (42058334..42070842, complement)
- Total number of exons:
- 10
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for NAGA variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- NAGA database
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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