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PMID: 11250079 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.

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

Gene ·Vol. 264 ·No. 2 ·2001-02-21 ·Pages 241-7

Huizing M, Didier A, Walenta J, Anikster Y, Gahl WA, Krämer H

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.

MeSH Terms
Amino Acid Sequence Blotting, Northern Carrier Proteins/genetics DNA, Complementary/chemistry,genetics Female Humans Membrane Proteins/genetics Molecular Sequence Data Phylogeny Proteins/genetics RNA, Messenger/genetics,metabolism Sequence Analysis, DNA Tissue Distribution Vesicular Transport Proteins
Chemicals
Carrier Proteins DNA, Complementary Membrane Proteins Proteins RNA, Messenger VPS11 protein, human VPS16 protein, human VPS18 protein, human VPS33A protein, human Vesicular Transport Proteins
Authors & Affiliations
6 authors, click to expand affiliations / ORCID
Huizing M
Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Development, National Institutes of Health, Bethesda, MD 20892, USA.
Didier A
Walenta J
Anikster Y
Gahl W A
Krämer H
Article Info
Journal
Gene
Abbr.
Gene
ISSN
0378-1119
Published
2001-02-21
Pages
241-7
Language
English
Region
Netherlands
NLM ID
7706761
Subset
IM
Grants
NEI NIH HHS · R01 EY010199 · United States
NEI NIH HHS · EY10199 · United States
Databases
GENBANK
AF308800, AF308801, AF308802, AF308803
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