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MIRAGE
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
Disease Ontology
DOID:0070094
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
7299 TYR tyrosinase
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P14679 Tyrosinase
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: April 7, 2025