NAGA (gene)

Last updated
NAGA
Protein NAGA PDB 3H53.png
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases NAGA , D22S674, GALB, alpha-N-acetylgalactosaminidase
External IDs OMIM: 104170 MGI: 1261422 HomoloGene: 221 GeneCards: NAGA
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000262
NM_001362848
NM_001362850

NM_008669
NM_001355546

RefSeq (protein)

NP_000253
NP_001349777
NP_001349779
NP_000253.1

NP_032695
NP_001342475

Location (UCSC) Chr 22: 42.06 – 42.07 Mb Chr 15: 82.21 – 82.22 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Alpha-N-acetylgalactosaminidase is an enzyme that in humans is encoded by the NAGA gene. [5]

Contents

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). [5]

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Schindler disease, also known as Kanzaki disease and alpha-N-acetylgalactosaminidase deficiency, is a rare disease found in humans. This lysosomal storage disorder is caused by a deficiency in the enzyme alpha-NAGA (alpha-N-acetylgalactosaminidase), attributable to mutations in the NAGA gene on chromosome 22, which leads to excessive lysosomal accumulation of glycoproteins. A deficiency of the alpha-NAGA enzyme leads to an accumulation of glycosphingolipids throughout the body. This accumulation of sugars gives rise to the clinical features associated with this disorder. Schindler disease is an autosomal recessive disorder, meaning that one must inherit an abnormal allele from both parents in order to have the disease.

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References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000198951 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000022453 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. 1 2 "Entrez Gene: NAGA N-acetylgalactosaminidase, alpha-".

Further reading