HPS6

Chr 10AR

HPS6 biogenesis of lysosomal organelles complex 2 subunit 3

Also known as: BLOC2S3

NCBI Gene: 79803 ENSG00000166189 UniProt: Q86YV9 OMIM: 614075

The protein regulates synthesis and function of lysosomes and specialized organelles including melanosomes and platelet dense granules, and acts as a cargo adapter for dynein-dynactin motor complex to mediate retrograde lysosomal transport from cell periphery to perinuclear region. Mutations cause Hermansky-Pudlak syndrome type 6, characterized by oculocutaneous albinism, bleeding diathesis due to platelet storage pool deficiency, and potential pulmonary fibrosis. Inheritance is autosomal recessive.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This intronless gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 5 protein. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 6. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Hermansky-Pudlak syndrome 6MIM #614075

Clinical highlights

Gene-disease validity (ClinGen)

Hermansky-Pudlak syndrome 6 · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

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Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.71

LOEUF

LOF

Mechanism· G2P