Gene: PYROXD2

Alternate names for this Gene: C10orf33|FP3420|YUEF

Gene Summary:

Gene is located in Chromosome: 10

Location in Chromosome : 10q24.2

Description of this Gene: pyridine nucleotide-disulphide oxidoreductase domain 2

Type of Gene: protein-coding

Gene: HPS1

Alternate names for this Gene: BLOC3S1|HPS

Gene Summary: This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is a component of three different protein complexes termed biogenesis of lysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 1. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on chromosome 22.

Gene is located in Chromosome: 10

Location in Chromosome : 10q24.2

Description of this Gene: HPS1 biogenesis of lysosomal organelles complex 3 subunit 1

Type of Gene: protein-coding