检测编号：NS0450117

基因 SLC25A20 与疾病

SLC25A20基因编码肉碱脂酰转移酶，该酶在脂肪酸代谢中具有重要作用。该酶能将肉毒碱与长链脂肪酸结合物转运至线粒体中，从而脂肪酸能代谢为能量，为相关组织器官供能。

已发现至少27种突变会导致肉碱脂酰转移酶缺乏症，脂肪酸无法代谢为能量，有害产物累积，损害肝脏、心脏和肌肉等。

基因名称	基因全名	基因位置	外显子个数	CDS长度
SLC25A20	solute carrier family 25 (carnitine/acylcarnitine translocase), member 20	3p21.31	9	约1892 bp
基因摘要	This gene product is one of several closely related mitochondrial-membrane carrier proteins that shuttle substrates between cytosol and the intramitochondrial matrix space. This protein mediates the transport of acylcarnitines into mitochondrial matrix for their oxidation by the mitochondrial fatty acid-oxidation pathway. Mutations in this gene are associated with carnitine-acylcarnitine translocase deficiency, which can cause a variety of pathological conditions such as hypoglycemia, cardiac arrest, hepatomegaly, hepatic dysfunction and muscle weakness, and is usually lethal in new born and infants. [provided by RefSeq, Jul 2008].