HPS5

HPS5, biogenesis of lysosomal organelles complex 2 subunit 2

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 6 protein and may interact with the cytoplasmic domain of integrin, alpha-3. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 5. Multiple transcript variants encoding two distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

From UniProt:

May regulate the synthesis and function of lysosomes and of highly specialized organelles, such as melanosomes and platelet dense granules. Regulates intracellular vesicular trafficking in fibroblasts. May be involved in the regulation of general functions of integrins.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Hermansky-Pudlak syndrome 5

From UniProt:

Hermansky-Pudlak syndrome 5 (HPS5): A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS. [MIM:614074]

Cytogenetic Location: 11p14, which is the short (p) arm of chromosome 11 at position 14

Molecular Location: base pairs 18,278,670 to 18,322,498 on chromosome 11 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 11p14, which is the short (p) arm of chromosome 11 at position 14
  • AIBP63
  • BLOC2S2