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This gene encodes a member of the acyl-CoA dehydrogenase family. Members of this family of proteins localize to the mitochondria and catalyze the rate-limiting step in the beta-oxidation of fatty acyl-CoA. The encoded protein is specifically active toward palmitoyl-CoA and long-chain unsaturated substrates. Mutations in this gene cause acyl-CoA dehydrogenase family member type 9 deficiency. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2010]
[中文简述(自动翻译):]  此基因编码酰基-CoA脱氢酶家族的一个成员。此蛋白质家族的成员定位于线粒体和催化脂酰辅酶A的β-氧化的限速步骤。所编码的蛋白质是朝向棕榈酰 - 辅酶A和长链不饱和底物特异性活性。突变这个基因导致酰基辅酶A脱氢酶家族成员类型9不足。选择性剪接结果在多个抄本变形。[由RefSeq的,2010年3月提供]
ACAD9基因(以及对应的蛋白质)的细胞分布位置:
ACAD9基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of | 0.480271442 | 7 | 14 | BeFree_CLINVAR_CTD_human_ORPHANET_UNIPROT |
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency | 0.000814326 | 3 | 0 | BeFree |
Synovial Cyst | 0.000271442 | 1 | 0 | BeFree |
Multiple Acyl Coenzyme A Dehydrogenase Deficiency | 0.000271442 | 1 | 0 | BeFree |
Myxoid cyst | 0.000271442 | 1 | 0 | BeFree |
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