oculocutaneous albinism type IV

Summary
Synonym
  • OCA4
Definition
An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of the SLC45A2 gene on chromosome 5p13.2.
Super Class
oculocutaneous albinism
Disease Ontology
DOID:0070098
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
51151 SLC45A2 solute carrier family 45 member 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
22293 Slc45a2 solute carrier family 45, member 2

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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: December 9, 2024