Name

HPS4 Gene

Hermansky-Pudlak syndrome 4

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. [provided by RefSeq, Aug 2012]

hps4 Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term hps4 in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

HPS4 Gene Set

From Pathway Commons Protein-Protein Interactions

interacting proteins for HPS4 from the Pathway Commons Protein-Protein Interactions dataset.