Cloning, structure, and chromosome localization of the mouse Glutaryl-CoA dehydrogenase gene

David M. Koeller, Kathleen Axtell DiGiulio, Stephen V. Angeloni, Lisa L. Dowler, Frank E. Frerman, Robert A. White, Stephen I. Goodman

Research output: Contribution to journalArticle

20 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)508-512
Number of pages5
JournalGenomics
Volume28
Issue number3
DOIs
StatePublished - Aug 10 1995

ASJC Scopus subject areas

  • Genetics

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    Koeller, D. M., DiGiulio, K. A., Angeloni, S. V., Dowler, L. L., Frerman, F. E., White, R. A., & Goodman, S. I. (1995). Cloning, structure, and chromosome localization of the mouse Glutaryl-CoA dehydrogenase gene. Genomics, 28(3), 508-512. https://doi.org/10.1006/geno.1995.1182