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
oculocutaneous albinism type IA
Summary
- Synonym
-
- OCA1A
- Oculocutaneous Albinism, Tyrosinase-Negative
- Definition
- An oculocutaneous albinism that has_material_basis_in an autosomal recessive null mutation of TYR on chromosome 11q14.3 with no residual protein activity.
- Super Class
- oculocutaneous albinism
External Links
- Disease Ontology
- DOID:0070094
- Mondo Disease Ontology
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P27797 | Calreticulin | |
| P27824 | Calnexin | |
| P54802 | Alpha-N-acetylglucosaminidase |
