HAO1 - hydroxyacid oxidase 1 Gene

中文名称：羟基酸氧化酶 1

种属: Homo sapiens

同用名: GO; GOX; GOX1; HAOX1

关于 HAO1

功能概要

该基因是具有 2-羟基酸氧化酶活性但在编码的蛋白质氨基酸序列、组织表达和底物偏好方面不同的三个相关基因之一。编码蛋白的亚细胞定位是过氧化物酶体。具体来说，该基因主要在肝脏和胰腺中表达，所编码的蛋白质在乙醇酸 (一种双碳底物) 上最活跃。该蛋白质对 2-羟基脂肪酸也有活性。在胰腺中检测到的高水平转录物可能代表可变剪接形式或使用多个近一致的上游聚腺苷酸化位点。[RefSeq 提供，2008 年 7 月]

This gene is one of three related genes that have 2-hydroxyacid oxidase activity yet differ in encoded protein amino acid sequence, tissue expression and substrate preference. Subcellular location of the encoded protein is the peroxisome. Specifically, this gene is expressed primarily in liver and pancreas and the encoded protein is most active on glycolate, a two-carbon substrate. The protein is also active on 2-hydroxy fatty acids. The transcript detected at high levels in pancreas may represent an alternatively spliced form or the use of a multiple near-consensus upstream polyadenylation site. [provided by RefSeq, Jul 2008]