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Choline is a direct precursor of acetylcholine (ACh), a neurotransmitter of the central and peripheral nervous system that regulates a variety of autonomic, cognitive, and motor functions. SLC5A7 is a Na(+)- and Cl(-)- dependent high-affinity transporter that mediates the uptake of choline for acetylcholine synthesis in cholinergic neurons (Apparsundaram et al., 2000 [PubMed 11027560]).[supplied by OMIM, Mar 2008]
[中文简述(自动翻译):]  胆碱是乙酰胆碱(ACh)的直接前体,调节各种植物神经,认知和运动功能的中枢和周围神经系统的神经递质。 SLC5A7是钠(+) - 和Cl( - ) - 依赖的高亲和力转运介导胆碱的摄取对胆碱能神经元的乙酰胆碱合成(Apparsundaram等,2000 [搜索PubMed 11027560])[由OMIM,三月供给。 2008]
SLC5A7基因(以及对应的蛋白质)的细胞分布位置:
SLC5A7基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Neuropathy, Distal Hereditary Motor, Type VIIA | 0.12 | 0 | 0 | CLINVAR |
Asthma | 0.08 | 1 | 0 | RGD |
Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
Rheumatoid Arthritis | 0.000271442 | 1 | 0 | BeFree |
Degenerative polyarthritis | 0.000271442 | 1 | 0 | BeFree |
Depressive Symptoms | 0.000271442 | 1 | 0 | BeFree |
Angelman Syndrome | 0.000271442 | 1 | 0 | BeFree |
Recurrent depression | 0.000271442 | 1 | 4 | BeFree |
Mood Disorders | 0.000271442 | 1 | 0 | BeFree |
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