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Hermansky-Pudlak syndrome 4

Summary
Definition
A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS4 gene on chromosome 22q12.1.
Super Class
Hermansky-Pudlak syndrome
Disease Ontology
DOID:0060542
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
89781 HPS4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q9NQG7 BLOC-3 complex member HPS4
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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

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Last updated: December 8, 2025