Gene: HPS4

Alternate names for this Gene: BLOC3S2|LE

Gene Summary: This gene encodes a protein component of biogenesis of lysosome-related organelles complexes (BLOC). BLOC complexes are important for the formation of endosomal-lysosomal organelles such as melanosomes and platelet dense granules. Mutations in this gene result in subtype 4 of Hermansky-Pudlak syndrome, a form of albinism. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 22

Location in Chromosome : 22q12.1

Description of this Gene: HPS4 biogenesis of lysosomal organelles complex 3 subunit 2

Type of Gene: protein-coding

rs9608491 in HPS4 gene and Blood Protein Measurement PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.

rs5752326 in HPS4 gene and Ischemic stroke PMID 26089329 2015 Meta-Analysis of Genome-Wide Association Studies Identifies Genetic Risk Factors for Stroke in African Americans.