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Huntington's disease-like 2
Summary
- Synonym
-
- HDL2
- Huntington disease-like 2
- Definition
- A neurodegenerative disease characterized by involuntary movements and abnormalities of voluntary movements, psychiatric symptoms, weight loss, and dementia with onset in the fourth decade and death about 20 years after disease onset, and has_material_basis_in autosomal dominant inheritance of heterozygous expansion of a CAG/CTG repeat in the junctophilin-3 gene (JPH3) on chromosome 16q24.
- Super Class
- neurodegenerative disease
External Links
- Disease Ontology
- DOID:0090104
- Mondo Disease Ontology
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 5290 | PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | |
| 5291 | PIK3CB | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | |
| 5293 | PIK3CD | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | |
| 5294 | PIK3CG | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | |
| 5335 | PLCG1 | phospholipase C gamma 1 | |
| 5538 | PPT1 | palmitoyl-protein thioesterase 1 | |
| 5563 | PRKAA2 | protein kinase AMP-activated catalytic subunit alpha 2 | |
| 5621 | PRNP | prion protein (Kanno blood group) | |
| 5743 | PTGS2 | prostaglandin-endoperoxide synthase 2 | |
| 5973 | RENBP | renin binding protein |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9Y6A2 | Cholesterol 24-hydroxylase |
