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

被引：57

作者：

Huizing, M

Didier, A

Walenta, J

Anikster, Y

Gahl, WA

Krämer, H ^{[1
]}

机构：

[1] Univ Texas, SW Med Ctr, Ctr Basic Neurosci, Dallas, TX 75390 USA

[2] Univ Texas, SW Med Ctr, Dept Cell Biol, Dallas, TX 75390 USA

[3] NICHHD, Sect Human Biochem Genet, Heritable Disorders Branch, NIH, Bethesda, MD 20892 USA

来源：

GENE | 2001年 / 264卷 / 02期

关键词：

Hermansky-Pudlak syndrome; lysosomal delivery; pigmentation;

D O I：

10.1016/S0378-1119(01)00333-X

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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. (C) 2001 Elsevier Science B.V. All rights reserved.

引用

页码：241 / 247

页数：7

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