Koeller D M, DiGiulio K A, Angeloni S V, Dowler L L, Frerman F E, White R A, Goodman S I
Department of Pediatrics, University of Colorado Health Sciences Center, Denver 80262, USA.
Genomics. 1995 Aug 10;28(3):508-12. doi: 10.1006/geno.1995.1182.
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.
戊二酰辅酶A脱氢酶（GCDH）是一种核编码的线粒体基质酶。在人类中，GCDH缺乏会导致I型戊二酸血症，这是一种氨基酸代谢的遗传性疾病，其特征为进行性神经退行性疾病。在本报告中，我们描述了小鼠GCDH（Gcdh）基因和cDNA的克隆、结构及其染色体定位。小鼠Gcdh cDNA长1.75 kb，包含一个438个氨基酸的开放阅读框。小鼠、人类和猪GCDH的氨基酸序列高度保守。小鼠Gcdh基因包含11个外显子，跨越7 kb的基因组DNA。通过回交分析将Gcdh定位到小鼠8号染色体上的一个区域，该区域与人类19号染色体的一个区域同源，人类基因先前已定位在该区域。
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