Entity Details

Primary name NAGA
Entity type gene
Source Source Link

Details

PrimaryID4668
RefseqGeneNG_009247
SymbolNAGA
Namealpha-N-acetylgalactosaminidase
Chromosome22
Location22q13.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-08-21
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsNAGAB_HUMAN

GO terms

Show/Hide Table
GOName
GO:0004557 alpha-galactosidase activity
GO:0005737 cytoplasm
GO:0005764 lysosome
GO:0008456 alpha-N-acetylgalactosaminidase activity
GO:0009311 oligosaccharide metabolic process
GO:0016052 carbohydrate catabolic process
GO:0016139 glycoside catabolic process
GO:0019377 glycolipid catabolic process
GO:0042803 protein homodimerization activity
GO:0046477 glycosylceramide catabolic process
GO:0070062 extracellular exosome

Diseases

Show/Hide Table
Disease IDSourceNameDescription
609241 OMIMSchindler disease (SCHIND)Form of NAGA deficiency characterized by early-onset neuroaxonal dystrophy and neurological signs (convulsion during fever, epilepsy, psychomotor retardation and hypotonia). NAGA deficiency is typically classified in three main phenotypes: NAGA deficiency type I (Schindler disease or Schindler disease type I) with severe manifestations; NAGA deficiency type II (Kanzazi disease or Schindler disease type II) which is mild; NAGA deficiency type III (Schindler disease type III) characterized by mild-to-moderate neurologic manifestations. NAGA deficiency results in the increased urinary excretion of glycopeptides and oligosaccharides containing alpha-N-acetylgalactosaminyl moieties. Inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry.
609242 OMIMKanzaki disease (KANZD)Autosomal recessive disorder characterized by late-onset, angiokeratoma corporis diffusum and mild intellectual impairment. The disease is caused by variants affecting the gene represented in this entry.

Interactions

7 interactions

InteractorPartnerSourcesPublicationsLink
NAGAAPPBioGRID21832049 details
NAGAGNGT1HPRD10360181 details
NAGATAFAZZINBioGRID, IntAct26186194 28514442 details
NAGASLAMF1BioGRID, IntAct28514442 details
NAGANEK4BioGRID, MINT25798074 details
NAGAFBXO6BioGRID22268729 details
NAGAMAN2B1BioGRID26344197 details