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Niemann-Pick disease type C1
Summary
- Synonym
-
- NPC1
- Definition
- A Niemann-Pick disease that has_material_basis_in an autosomal recessive mutation of the NPC1 gene on chromosome 18q11.2.
- Super Class
- Niemann-Pick disease
External Links
- Disease Ontology
- DOID:0070113
- Mondo Disease Ontology
- OMIM
- GARD
- MGI genotype (from TogoID)
- WikiPathways (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 3988 | LIPA | lipase A, lysosomal acid type | |
| 4864 | NPC1 | NPC intracellular cholesterol transporter 1 | |
| 5290 | PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | |
| 6609 | SMPD1 | sphingomyelin phosphodiesterase 1 | |
| 7357 | UGCG | UDP-glucose ceramide glucosyltransferase | |
| 8869 | ST3GAL5 | ST3 beta-galactoside alpha-2,3-sialyltransferase 5 | |
| 57704 | GBA2 | glucosylceramidase beta 2 | |
| 132789 | GNPDA2 | glucosamine-6-phosphate deaminase 2 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q13231 | Chitotriosidase-1 | |
| Q15485 | Ficolin-2 | |
| Q8TDQ7 | Glucosamine-6-phosphate isomerase 2 | |
| Q9UNP4 | Lactosylceramide alpha-2,3-sialyltransferase |
