Gene: HPS3

Alternate names for this Gene: BLOC2S1|SUTAL

Gene Summary: 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.

Gene is located in Chromosome: 3

Location in Chromosome : 3q24

Description of this Gene: HPS3 biogenesis of lysosomal organelles complex 2 subunit 1

Type of Gene: protein-coding

rs121908316 in HPS3 gene and HERMANSKY-PUDLAK SYNDROME 3 PMID 11455388 2001 Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico.

PMID 11590544 2001 Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency.

rs201227603 in HPS3 gene and Hermanski-Pudlak Syndrome PMID 11590544 2001 Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.