HPS3

Chr 3AR

HPS3 biogenesis of lysosomal organelles complex 2 subunit 1

Also known as: BLOC2S1, SUTAL

NCBI Gene: 84343 ENSG00000163755 UniProt: Q969F9 OMIM: 614072

The HPS3 protein contains clathrin-binding motifs and sorting signals that direct vesicle trafficking to melanosomes, platelet dense granules, and lysosomes, functioning in the early stages of melanosome biogenesis and maturation. Mutations cause Hermansky-Pudlak syndrome type 3, an autosomal recessive disorder affecting pigmentation, bleeding due to platelet storage pool deficiency, and lysosomal function. The gene shows tolerance to loss-of-function variation (pLI near zero), consistent with the recessive inheritance pattern where both alleles must be affected to cause disease.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a protein containing a potential clathrin-binding motif, consensus dileucine signals, and tyrosine-based sorting signals for targeting to vesicles of lysosomal lineage. The encoded protein may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 3. [provided by RefSeq, Apr 2015]

OMIM ResearchGenerating clinical summary…

LOFmechanismARLOEUF 1.022 OMIM phenotypes

Clinical Summary— HPS3

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Gene-Disease Validity (ClinGen)

Hermansky-Pudlak syndrome 3 · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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