Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Chediak-Higashi syndrome
Summary
- Synonym
-
- CHS
- Chediak - Steinbrinck anomaly
- Definition
- A syndrome characterized by oculocutaneous albinism, immune deficiency, coagulation deficiency and neuropathy and that has_material_basis_in homozygous or compound heterozygous mutation in the lysosomal trafficking regulator gene (LYST) on chromosome 1q42.
- Super Class
- autosomal recessive disease syndrome
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 28 | ABO | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | |
| 308 | ANXA5 | annexin A5 | |
| 3417 | IDH1 | isocitrate dehydrogenase (NADP(+)) 1 | |
| 3418 | IDH2 | isocitrate dehydrogenase (NADP(+)) 2 | |
| 4056 | LTC4S | leukotriene C4 synthase | |
| 5563 | PRKAA2 | protein kinase AMP-activated catalytic subunit alpha 2 | |
| 5621 | PRNP | prion protein (Kanno blood group) |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O75874 | Isocitrate dehydrogenase [NADP] cytoplasmic | |
| P04156 | Major prion protein | |
| P08758 | Annexin A5 | |
| P16442 | Histo-blood group ABO system transferase | |
| P48735 | Isocitrate dehydrogenase [NADP], mitochondrial | |
| P54646 | 5'-AMP-activated protein kinase catalytic subunit alpha-2 |
