HPS4, HPS4 biogenesis of lysosomal organelles complex 3 subunit 2

HPS4, HPS4 biogenesis of lysosomal organelles complex 3 subunit 2

• 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]

• Gene Synonyms (Hermansky-Pudlak syndrome 4 protein, light-ear protein homolog, BLOC3S2, LE,)
• NCBI Gene ID: 89781
• Species: Homo sapiens (Human)
• UNIPROT ID#>>Q9NQG7
  UNIPROT ID#>>Q6P1K3
  UNIPROT ID#>>A8K2E6
• View the NCBI Database for this Gene »

Gene products are often involved in multiple pathways and networks within a living cell. Learn more about other interacting partners.

HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 interacts with:

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