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3-Hydroxyanthranilate 3,4-dioxygenase is a monomeric cytosolic protein belonging to the family of intramolecular dioxygenases containing nonheme ferrous iron. It is widely distributed in peripheral organs, such as liver and kidney, and is also present in low amounts in the central nervous system. HAAO catalyzes the synthesis of quinolinic acid (QUIN) from 3-hydroxyanthranilic acid. QUIN is an excitotoxin whose toxicity is mediated by its ability to activate glutamate N-methyl-D-aspartate receptors. Increased cerebral levels of QUIN may participate in the pathogenesis of neurologic and inflammatory disorders. HAAO has been suggested to play a role in disorders associated with altered tissue levels of QUIN. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):] 3- Hydroxyanthranilate 3,4-双加氧酶是属于家庭包含非血红素铁的铁分子内双加氧酶的单体胞质蛋白。它广泛分布于外周器官,如肝,肾,和也存在于低量在中枢神经系统中。 HAAO催化喹啉酸(QUIN)的由3-羟基-2-氨基苯甲酸的合成。 QUIN是兴奋性毒素的毒性是由其激活谷氨酸N-甲基-D-天冬氨酸受体的能力介导的。 QUIN增加脑水平可能参与神经和炎性疾病的发病机制。 HAAO已经提出在与QUIN的改变的组织水平有关的病症中发挥作用。 [由RefSeq的,2008年7月提供]
HAAO基因(以及对应的蛋白质)的细胞分布位置:
HAAO基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Hypospadias | 0.12 | 1 | 1 | GWASCAT |
Multiple Sclerosis | 0.004734064 | 2 | 2 | GAD |
Alcoholic Intoxication, Chronic | 0.002367032 | 1 | 0 | GAD |
Amyotrophic Lateral Sclerosis | 0.002367032 | 1 | 1 | GAD |
Malignant neoplasm of endometrium | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of prostate | 0.000271442 | 1 | 0 | BeFree |
Endometrial Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Prostate carcinoma | 0.000271442 | 1 | 0 | BeFree |
Benign Prostatic Hyperplasia | 0.000271442 | 1 | 0 | BeFree |
Uterine Corpus Cancer | 0.000271442 | 1 | 0 | BeFree |
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