Carnitine palmitoyltransferase type I deficiency（肉碱棕榈酰转移酶I型缺陷） |
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CPT1A基因编码肉碱棕榈酰转移酶1，存在于肝脏中，该酶在脂肪酸代谢中具有重要作用。该酶将肉毒碱结合至长链脂肪酸，使其能进入线粒体膜，进而代谢为能量。
已发现20多种突变，导致肉碱棕榈酰转移酶1活性降低甚至失活，脂肪酸无法正常代谢，导致低血糖和脂肪酸代谢产物缺乏，以及脂肪酸累积，损害肝脏、心脏、大脑等组织器官
| 基因名称 | 基因全名 | 基因位置 | 外显子个数 | CDS长度 |
|---|---|---|---|---|
| CPT1A | carnitine palmitoyltransferase 1A (liver) | 11q13.2 | 19 | 约5253 bp |
| 基因摘要 | The mitochondrial oxidation of long-chain fatty acids is initiated by the sequential action of carnitine palmitoyltransferase I (which is located in the outer membrane and is detergent-labile) and carnitine palmitoyltransferase II (which is located in the inner membrane and is detergent-stable), together with a carnitine-acylcarnitine translocase. CPT I is the key enzyme in the carnitine-dependent transport across the mitochondrial inner membrane and its deficiency results in a decreased rate of fatty acid beta-oxidation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. | |||