HPS4, biogenesis of lysosomal organelles complex 3 subunit 2
The information on this page was automatically extracted from online scientific databases.
From NCBI Gene:
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]
May function in the pathway of organelle biogenesis.
Covered on Genetics Home Reference:
From NCBI Gene:
- Hermansky-Pudlak syndrome 4
Hermansky-Pudlak syndrome 4 (HPS4): 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:614073]
Cytogenetic Location: 22cen-q12.3, which is on chromosome 22 between the centromere (junction of the long and short arm) and the long (q) arm at position 12.3
Molecular Location: base pairs 26,443,613 to 26,483,863 on chromosome 22 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)