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
Hermansky-Pudlak syndrome
Summary
- Definition
- A syndrome characterized by oculocutaneous albinism, bleeding problems due to platelet storage pool defect, visual impairment and lysosomal accumulation of ceroid lipofuscin.
- Super Class
- autosomal recessive disease syndrome
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P17931 | Galectin-3 | |
| P36222 | Chitinase-3-like protein 1 | |
| Q8IWL2 | Pulmonary surfactant-associated protein A1 | |
| Q9BTU6 | Phosphatidylinositol 4-kinase type 2-alpha |
