Carnitine palmitoyltransferase type II deficiency(肉碱棕榈酰转移酶II型缺陷) |
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CPT2基因编码肉碱棕榈酰转移酶2,在脂肪酸代谢中具有重要作用,该酶转运肉毒碱以及辅酶A,长链脂肪酸与肉毒碱结合并与辅酶A连接后才能进入线粒体,随之代谢为能量,为相关组织器官供能。
已发现70多种突变,会导致肉碱棕榈酰转移酶2缺乏症,长链脂肪酸无法进入线粒体内进入代谢为能量,进而导致肌肉疼痛、肌无力、低血糖等,同时也会对肝脏、心脏和肌肉等造成损害。
基因名称 | 基因全名 | 基因位置 | 外显子个数 | CDS长度 |
---|---|---|---|---|
CPT2 | carnitine palmitoyltransferase 2 | 1p32 | 5 | 约3094 bp |
基因摘要 | The protein encoded by this gene is a nuclear protein which is transported to the mitochondrial inner membrane. Together with carnitine palmitoyltransferase I, the encoded protein oxidizes long-chain fatty acids in the mitochondria. Defects in this gene are associated with mitochondrial long-chain fatty-acid (LCFA) oxidation disorders. [provided by RefSeq, Jul 2008]. |