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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Niemann-Pick disease type C2
Summary
- Synonym
-
- NPC2
- Definition
- A Niemann-Pick disease that has_material_basis_in an autosomal recessive mutation of the NPC2 gene on chromosome 14q24.3.
- Super Class
- Niemann-Pick disease
External Links
- Disease Ontology
- DOID:0070114
- Mondo Disease Ontology
- OMIM
- GARD
- WikiPathways (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P04062 | Lysosomal acid glucosylceramidase | |
| P61916 | NPC intracellular cholesterol transporter 2 |
