更多...
收起
Short/branched chain acyl-CoA dehydrogenase(ACADSB) is a member of the acyl-CoA dehydrogenase family of enzymes that catalyze the dehydrogenation of acyl-CoA derivatives in the metabolism of fatty acids or branch chained amino acids. Substrate specificity is the primary characteristic used to define members of this gene family. The ACADSB gene product has the greatest activity towards the short branched chain acyl-CoA derivative, (S)-2-methylbutyryl-CoA, but also reacts significantly with other 2-methyl branched chain substrates and with short straight chain acyl-CoAs. The cDNA encodes for a mitochondrial precursor protein which is cleaved upon mitochondrial import and predicted to yield a mature peptide of approximately 43.7-KDa. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  短/支链酰基辅酶A脱氢酶(ACADSB)是催化酰基辅酶A衍生物的脱氢中的脂肪酸或支链氨基酸代谢酶的酰基辅酶A脱氢酶家族的一个成员。底物特异性是用于定义此基因家族成员的主要特征。该ACADSB基因产物具有朝向所述短支链酰基-CoA衍生物的最大活性,(S)-2-甲基丁酰辅酶A,而且还与其他的2-甲基支链基板和短直链酰基辅酶A显著反应。该基因编码是在线粒体进口切割,预计产生约43.7-kDa的成熟肽线粒体前体蛋白。 [由RefSeq的,2008年7月提供]
ACADSB基因(以及对应的蛋白质)的细胞分布位置:
ACADSB基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
2-Methylbutyryl-CoA Dehydrogenase Deficiency | 0.48 | 1 | 5 | CLINVAR_CTD_human_ORPHANET_UNIPROT |
Autistic Disorder | 0.12 | 1 | 0 | CTD_human |
Hypertensive disease | 0.002638474 | 1 | 0 | BeFree_GAD |
Malignant neoplasm of breast | 0.000271442 | 1 | 6 | BeFree |
Diabetes Mellitus | 0.000271442 | 1 | 0 | BeFree |
Hyperlipidemia | 0.000271442 | 1 | 0 | BeFree |
Essential Hypertension | 0.000271442 | 1 | 0 | BeFree |
Condition, Preneoplastic | 0.000271442 | 1 | 0 | BeFree |
Breast Carcinoma | 0.000271442 | 1 | 6 | BeFree |
2-methylbutyrylglycinuria | 0.000271442 | 1 | 0 | BeFree |
Liver carcinoma | 0.000271442 | 1 | 0 | BeFree |
忘记密码? 点击找回密码.
扫一扫右方二维码,关注微信订阅号,实时查看信息,关注医学生物学动态。