NAGA alpha-N-acetylgalactosaminidase

Gene ID: 4668, updated on 5-Mar-2024
Gene type: protein coding
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

Description	Tests
Alpha-N-acetylgalactosaminidase deficiency type 1 MedGen: C1836544OMIM: 609241GeneReviews: Not available	See labs
Alpha-N-acetylgalactosaminidase deficiency type 2 MedGen: C1836522OMIM: 609242GeneReviews: Not available	See labs
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

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

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

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
NAGA database
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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