| 翻訳と辞書 |
Aldehyde dehydrogenase 6 family, member A1
Methylmalonate-semialdehyde dehydrogenase (), mitochondrial (MMSDH) is an enzyme that in humans is encoded by the ''ALDH6A1'' gene.〔(【引用サイトリンク】 url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4329 )〕
This protein belongs to the aldehyde dehydrogenases family of proteins. This enzyme plays a role in the valine and pyrimidine catabolic pathways. The product of this gene, a mitochondrial methylmalonate semialdehyde dehydrogenase, catalyzes the irreversible oxidative decarboxylation of malonate and methylmalonate semialdehydes to acetyl- and propionyl-CoA. Methylmalonate semialdehyde dehydrogenase deficiency is characterized by elevated beta-alanine, 3-hydroxypropionic acid, and both isomers of 3-amino and 3-hydroxyisobutyric acids in urine organic acids.〔Methylmalonate semialdehyde dehydrogenase deficiency is caused by mutations in this gene and the resulting protein.
== Structure ==
The ALDH6A1 gene is mapped onto 14q24.3, between markers D14S71 and D14S986, and has an exon count of 12. 〔 The mRNA expression levels of this gene are highest in the kidney and liver, although mRNA levels have been found in many other tissues. The mature protein that this gene translates in humans is 503 amino acids long, which is similar to other enzymes of this family, which all comprise around 500 amino acids. This enzyme localizes to the mitochondria. Unlike other mitochondrial entry sequences, this does not contain as many arginine residues, and is in fact slightly longer.
抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』
■ウィキペディアで「Aldehyde dehydrogenase 6 family, member A1」の詳細全文を読む
スポンサード リンク
| 翻訳と辞書 : 翻訳のためのインターネットリソース |
Copyright(C) kotoba.ne.jp 1997-2016. All Rights Reserved.
|
|