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.