The CHiPS Domain--ancient traces for the Hermansky-Pudlak syndrome.
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.
Hoffman-Sommer
Marta
M
Institute of Biochemistry and Biophysics, Polish Academy of Sciences, Pawinskiego 5a, Warsaw 02-106, Poland.
Grynberg
Marcin
M
Kucharczyk
Roza
R
Rytka
Joanna
J
D000595:Amino Acid Sequence; D000818:Animals; D020662:Guanine Nucleotide Exchange Factors; D022861:Hermanski-Pudlak Syndrome / Q000235:genetics / Q000503:physiopathology*; D006801:Humans; D051379:Mice; D008969:Molecular Sequence Data; D011506:Proteins / Q000737:chemistry / Q000235:genetics; D017386:Sequence Homology, Amino Acid
D020662:Guanine Nucleotide Exchange Factors; C451752:HPS4 protein, human; D011506:Proteins