| Primary Identifier | IPR029437 | Type | Domain |
| Short Name | HPS3_N |
| description | This entry represents the N-terminal domain of BLOC-2 complex member HPS3. In human HPS3, this region carries the clathrin-binding motif LLDFE at residues 172-176. Hermansky-Pudlak syndrome caused by mutations in HPS3 gene is a genetically heterogeneous autosomal recessive disorder characterised by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects [, ]. |
