Gene: HPS6

Alternate names for this Gene: BLOC2S3

Gene Summary: 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.

Gene is located in Chromosome: 10

Location in Chromosome : 10q24.32

Description of this Gene: HPS6 biogenesis of lysosomal organelles complex 2 subunit 3

Type of Gene: protein-coding

rs281865108 in HPS6 gene and HERMANSKY-PUDLAK SYNDROME 6 PMID 19843503 2009 Clinical and cellular characterisation of Hermansky-Pudlak syndrome type 6.

PMID 12548288 2003 Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6.

PMID 17041891 2006 A new genetic isolate with a unique phenotype of syndromic oculocutaneous albinism: clinical, molecular, and cellular characteristics.

rs1564899012 in HPS6 gene and Hermanski-Pudlak Syndrome PMID 31064749 2019 Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.