菜单 基因医生

这个基因编码类固醇甲状腺激素视黄醇受体超家族的一个成员编码的蛋白质可以作为转录因子该基因突变与多巴胺能功能障碍相关的疾病有关，包括帕金森病、精神分裂症和躁狂抑郁症该基因的失调可能与类风湿关节炎有关已经描述了选择性剪接的转录变体，但其生物学有效性尚未确定。[由RefSeq提供，2008年7月]
This gene encodes a member of the steroid-thyroid hormone-retinoid receptor superfamily. The encoded protein may act as a transcription factor. Mutations in this gene have been associated with disorders related to dopaminergic dysfunction, including Parkinson disease, schizophernia, and manic depression. Misregulation of this gene may be associated with rheumatoid arthritis. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]