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References OMIM Gene GeneReviews HGMD HGNC
last update : 10/12/2008
Symbol HPS7
Location 6p22.3
Name Hermansky-Pudlak syndrome 7
Corresponding gene DTNBP1
Main clinical features
  • disorder in which oculocutaneous albinism, bleeding, and lysosomal ceroid storage result from defects of multiple cytoplasmic organelles : melanosomes, platelet-dense granules, and lysosomes
  • Genetic determination autosomal recessive
    Function/system disorder hematology
    Type disease
    Gene product
    Name dystrobrevin binding protein 1
    Remark(s) mutations leading to defective vesicular biogenesis or trafficking that affect lysosomes, lysosome-related organelles (for example melanosomes and platelet dense granules)