Domain

Hermansky-Pudlak syndrome 3, central region (IPR028167)

Short name: HPS3_central_dom

Domain relationships

None.

Description

This entry represents the central domain of the Hermansky-Pudlak syndrome 3 protein. This region carries a number of tyrosine sorting motifs and one of two di-leucine sorting boxes at residues as well as a peroxisomal matrix targetting motif. Mutation in the gene that encodes this protein causes Hermansky-Pudlak syndrome 3 (HPS3), a genetically heterogeneous autosomal recessive disorder characterised by oculocutaneous albinism, a bleeding diathesis due to the absence of platelet dense granules, and lysosomal storage defects [PMID: 11455388, PMID: 11590544].

Contributing signatures

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