Entity Details
| Primary name |
NAGAB_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | P17050 |
| EntryName | NAGAB_HUMAN |
| FullName | Alpha-N-acetylgalactosaminidase |
| TaxID | 9606 |
| Evidence | evidence at protein level |
| Length | 411 |
| SequenceStatus | complete |
| DateCreated | 1990-08-01 |
| DateModified | 2021-06-02 |
Subcellular Location
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| Subcellular Location |
| Lysosome |
Domains
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| Domain | Name | Category | Type |
| IPR000111 | Glycoside hydrolase family 27/36, conserved site | Site | Conserved site |
| IPR002241 | Glycoside hydrolase, family 27 | Family | Family |
| IPR013780 | Glycosyl hydrolase, all-beta | Family | Homologous superfamily |
| IPR013785 | Aldolase-type TIM barrel | Family | Homologous superfamily |
| IPR017853 | Glycoside hydrolase superfamily | Family | Homologous superfamily |
| IPR035373 | Alpha galactosidase A, C-terminal beta-sandwich domain | Domain | Domain |
Diseases
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| Disease ID | Source | Name | Description |
| 609241 | OMIM | Schindler 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 | OMIM | Kanzaki 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. |
Drugs
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| Drug | Name | Source | Type |
| DB09462 | Glycerin | Drugbank | small molecule |
Interactions
2 interactions