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The CHiPS Domain – Ancient Traces for the Hermansky–Pudlak Syndrome
Author(s) -
HoffmanSommer Marta,
Grynberg Marcin,
Kucharczyk Roza,
Rytka Joanna
Publication year - 2005
Publication title -
traffic
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.677
H-Index - 130
eISSN - 1600-0854
pISSN - 1398-9219
DOI - 10.1111/j.1600-0854.2005.00301.x
Subject(s) - hermansky–pudlak syndrome , oculocutaneous albinism , biology , bleeding diathesis , lysosome , gene , tunicate , genetics , albinism , organelle , microbiology and biotechnology , immunology , pathology , medicine , ecology , biochemistry , platelet , pulmonary fibrosis , enzyme , fibrosis
Hermansky–Pudlak syndrome (HPS) is a rare disorder caused by malfunctions of lysosomes and specialized lysosome‐related organelles, resulting primarily in oculocutaneous albinism and bleeding diathesis. The majority of the HPS genes have been described as novel, but herein we report the identification of a conserved protein family which includes human HPS4, as well as distant homologs for other HPS genes. Our results suggest that the cellular machinery involved in the HPS syndrome is ancient.