HPS3 gene

• Overview
• Albinism
• References

Overview

Gene (OMIM No.)	HPS3 (#606118)
Function of gene/protein	Protein: Subunit 1 of the biogenesis of lysosomal-related organelles complex 2 (BLOC-2) Forms the BLOC-2 complex with HPS5 and HPS6 BLOC-2 complex plays a role in the biogenesis of lysosomes and lysosome-related organelles (LROs) Lysosomes are cytoplasmic organelles that serve as a major degradative compartment in eukaryotes LROs have similar features to lysosomes but have distinct morphology, composition and/or function BLOC-2 controls the sorting and transport of proteins into LROs such as melanosomes and platelet dense granules during their formation
Clinical phenotype (OMIM phenotype no.)	Hermansky-Pudlak syndrome 3 (#614072)
Inheritance	Autosomal recessive
Ocular features	Albinism Intra- and interfamilial variability in disease severity
Systemic features	Skin and hair depigmentation Bleeding diathesis due to platelet storage pool deficiency (easy/prolonged bleeding, easy bruising, prolonged/heavy menorrhagia, epistaxis)
Key investigations	Orthoptic assessment and refraction OCT to detect foveal hypoplasia Visual evoked potentials to detect evidence of chiasmal misrouting Eye movement recordings Systemic assessment with a pediatrician, haematologists and other relevant specialists
Molecular diagnosis	Next generation sequencing Targeted gene panels (albinism) Whole exome sequencing Whole genome sequencing
Management	Ocular Management of albinism Systemic Multidisciplinary approach
Therapies under research	None in clinical trials at present
Further information	Medline Plus

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References

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