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The protein encoded by this gene is the first enzyme of the fatty acid beta-oxidation pathway, which catalyzes the desaturation of acyl-CoAs to 2-trans-enoyl-CoAs. It donates electrons directly to molecular oxygen, thereby producing hydrogen peroxide. Defects in this gene result in pseudoneonatal adrenoleukodystrophy, a disease that is characterized by accumulation of very long chain fatty acids. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  由该基因编码的蛋白质是脂肪酸β-氧化途径,其催化酰基辅酶A的去饱和2-反式烯酰基辅酶A的第一种酶。它直接将电子提供给分子氧,从而产生过氧化氢。缺陷在该基因导致pseudoneonatal肾上腺脑白质营养不良,即结合了非常长链脂肪酸积累的疾病。编码不同同种型的可变剪接转录物变体也已确定。 [由RefSeq的,2008年7月提供]
ACOX1基因(以及对应的蛋白质)的细胞分布位置:
ACOX1基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Peroxisomal ACYL-COA oxidase deficiency | 0.560542884 | 3 | 7 | BeFree_CLINVAR_CTD_human_MGD_ORPHANET_UNIPROT |
Liver carcinoma | 0.120814326 | 4 | 0 | BeFree_CTD_human |
Diabetes Mellitus, Experimental | 0.12 | 1 | 0 | CTD_human |
Acyl-CoA oxidase deficiency | 0.12 | 0 | 0 | ORPHANET |
Steatohepatitis | 0.000814326 | 3 | 0 | BeFree |
Hepatocarcinogenesis | 0.000542884 | 2 | 0 | BeFree |
Fatty Liver | 0.000271442 | 1 | 0 | BeFree |
Neurodegenerative Disorders | 0.000271442 | 1 | 0 | BeFree |
Deficiency of oxidase | 0.000271442 | 1 | 0 | BeFree |
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1 | 0.000271442 | 1 | 0 | BeFree |
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