Family

Hermansky-Pudlak syndrome 1 protein (IPR026053)

Short name: HPS1

Family relationships

None.

Description

Defects in human HPS1 are the cause of Hermansky-Pudlak syndrome type 1 (HPS1). Hermansky-Pudlak syndrome (HPS) is an often-fatal autosomal recessive disease in which albinism, bleeding, and lysosomal storage result from defects of diverse cytoplasmic organelles: melanosomes, platelet dense bodies, and lysosomes [PMID: 9497254, PMID: 8896559].

Human HPS1 is a transmembrane protein that is likely to be a component of multiple cytoplasmic organelles and is apparently crucial for their normal development and function [PMID: 8896559].

Contributing signatures

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