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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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 |
|---|---|---|---|
| 27163 | NAAA | N-acylethanolamine acid amidase | |
| 27306 | HPGDS | hematopoietic prostaglandin D synthase | |
| 51548 | SIRT6 | sirtuin 6 | |
| 54658 | UGT1A1 | UDP glucuronosyltransferase family 1 member A1 | |
| 54732 | TMED9 | transmembrane p24 trafficking protein 9 | |
| 56848 | SPHK2 | sphingosine kinase 2 | |
| 57704 | GBA2 | glucosylceramidase beta 2 | |
| 64116 | SLC39A8 | solute carrier family 39 member 8 | |
| 148738 | HJV | hemojuvelin BMP co-receptor | |
| 253430 | IPMK | inositol polyphosphate multikinase |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q6ZVN8 | Hemojuvelin | |
| Q8NFU5 | Inositol polyphosphate multikinase | |
| Q92187 | CMP-N-acetylneuraminate-poly-alpha-2,8-sialyltransferase | |
| Q96SL4 | Glutathione peroxidase 7 | |
| Q99685 | Monoglyceride lipase | |
| Q99798 | Aconitate hydratase, mitochondrial | |
| Q9BVK6 | Transmembrane emp24 domain-containing protein 9 | |
| Q9C0K1 | Metal cation symporter ZIP8 | |
| Q9UEF7 | Klotho | |
| Q9Y286 | Sialic acid-binding Ig-like lectin 7 |
