Molecular cloning and characterization of human VPS18, VPS 11, VPS16, and VPS33

Marjan Huizing, Aaron Didier, Jason Walenta, Yair Anikster, William A. Gahl, Helmut Krämer

Research output: Contribution to journalArticlepeer-review

52 Scopus citations

Abstract

In multicellular organisms, the delivery of proteins to lysosomes is essential. Many of the genes necessary for this process have first been identified by their requirement for vacuolar delivery in yeast. A subset of these genes, the four class C vps genes, is necessary for the delivery of endocytic and biosynthetic cargo in yeast, and also in Drosophila. Here, we describe the sequence and expression pattern of four human homologs of these genes. This initial molecular description of these four genes is an important step towards their evaluation as candidate genes that may be involved in the pathogenesis of Hermansky-Pudlak syndrome-related diseases.

Original languageEnglish (US)
Pages (from-to)241-247
Number of pages7
JournalGene
Volume264
Issue number2
DOIs
StatePublished - Feb 21 2001

Keywords

  • Hermansky-Pudlak syndrome
  • Lysosomal delivery
  • Pigmentation

ASJC Scopus subject areas

  • Genetics

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