Domain

Hermansky-Pudlak syndrome 3 protein, N-terminal domain (IPR029437)

Short name: HPS3_N

Domain relationships

None.

Description

This entry represents the N-terminal domain of the Hermansky-Pudlak syndrome 3 (HPS3) protein. 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 [PMID: 11455388, PMID: 11590544].

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.
Pfam