抄録
Holocarboxylase synthetase (HCS) plays an essential role in biotin utilization in eukaryotic cells and its deficiency causes biotin-responsive multiple carboxylase deficiency in humans. We have cloned the human HCS cDNA and show that antiserum against the recombinant protein immunoprecipitates human HCS. A one base deletion resulting in a premature termination and a missense mutation (Leu to Pro) were found in cells from siblings with HCS deficiency. Human HCS shows homology to BirA, which acts as both a biotin-[acetyl-CoA-carboxylase] ligase and a biotin represser in E. coli, suggesting a functional relationship between the two proteins. The human HCS gene maps to chromosome 21q22.1.
本文言語 | English |
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ページ(範囲) | 122-128 |
ページ数 | 7 |
ジャーナル | Nature Genetics |
巻 | 8 |
号 | 2 |
DOI | |
出版ステータス | Published - 1994 10月 |
ASJC Scopus subject areas
- 遺伝学