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The protein encoded by this gene, a member of the carnitine/choline acetyltransferase family, is the rate-controlling enzyme of the long-chain fatty acid beta-oxidation pathway in muscle mitochondria. This enzyme is required for the net transport of long-chain fatty acyl-CoAs from the cytoplasm into the mitochondria. Multiple transcript variants encoding different isoforms have been found for this gene, and read-through transcripts are expressed from the upstream locus that include exons from this gene. [provided by RefSeq, Jun 2009]
[中文简述(自动翻译):]  由该基因编码的蛋白质,肉碱/胆碱乙酰转移酶家族中的一员,是在肌肉线粒体的长链脂肪酸的β-氧化途径的限速酶。这种酶所需的长链脂肪酰基辅酶A从细胞质的净输送进入线粒体。已发现此基因编码不同同种型的多个转录物变体,以及通读转录从上游轨迹包括从该基因的外显子表达。 [由RefSeq的,2009年06月提供]
CPT1B基因(以及对应的蛋白质)的细胞分布位置:
CPT1B基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Narcolepsy | 0.123724241 | 5 | 3 | BeFree_CTD_human_GAD |
Diabetes Mellitus, Experimental | 0.12 | 1 | 0 | CTD_human |
Cardiomegaly | 0.12 | 1 | 0 | CTD_human |
Liver neoplasms | 0.12 | 1 | 0 | CTD_human |
Myocardial Ischemia | 0.12 | 1 | 0 | CTD_human |
Diabetes Mellitus, Non-Insulin-Dependent | 0.002638474 | 2 | 0 | BeFree_GAD |
Left Ventricular Hypertrophy | 0.002638474 | 1 | 0 | BeFree_GAD |
Alzheimer's Disease | 0.002367032 | 1 | 0 | GAD |
Disorders of Excessive Somnolence | 0.002367032 | 1 | 0 | GAD |
Chronic Lymphocytic Leukemia | 0.002367032 | 1 | 0 | GAD |
Obesity | 0.000814326 | 3 | 1 | BeFree |
Obesity, Morbid | 0.000271442 | 1 | 0 | BeFree |
Metabolic Syndrome X | 0.000271442 | 1 | 0 | BeFree |
Narcolepsy-Cataplexy Syndrome | 0.000271442 | 1 | 0 | BeFree |
Hypersomnia | 0.000271442 | 1 | 0 | BeFree |
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