CLONING, STRUCTURE, AND CHROMOSOME LOCALIZATION OF THE MOUSE GLUTARYL-COA DEHYDROGENASE GENE

被引：21

作者：

KOELLER, DM ^{[1
]}

DIGIULIO, KA ^{[1
]}

ANGELONI, SV ^{[1
]}

DOWLER, LL ^{[1
]}

FRERMAN, FE ^{[1
]}

WHITE, RA ^{[1
]}

GOODMAN, SI ^{[1
]}

机构：

[1] UNIV MISSOURI, CHILDRENS MERCY HOSP, SCH MED, GENET SECT, KANSAS CITY, MO 64108 USA

来源：

GENOMICS | 1995年 / 28卷 / 03期

关键词：

D O I：

10.1006/geno.1995.1182

中图分类号：

Q81 [生物工程学（生物技术）]; Q93 [微生物学];

学科分类号：

071005 ; 0836 ; 090102 ; 100705 ;

摘要：

Glutaryl-CoA dehydrogenase (GCDH) is a nuclear-encoded, mitochondrial matrix enzyme. In humans, deficiency of GCDH leads to glutaric acidemia type I, an inherited disorder of amino acid metabolism characterized by a progressive neurodegenerative disease. In this report we describe the cloning and structure of the mouse GCDH (Gcdh) gene and cDNA and its chromosomal localization. The mouse Gcdh cDNA is 1.75 kb long and contains an open reading frame of 438 amino acids. The amino acid sequences of mouse, human, and pig GCDH are highly conserved. The mouse Gcdh gene contains 11 exons and spans 7 kb of genomic DNA Gcdh was mapped by backcross analysis to mouse chromosome 8 within a region that is homologous to a region of human chromosome 19, where the human gene was previously mapped. (C) 1995 Academic Press, Inc.

引用

页码：508 / 512

页数：5

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