检测编号：NS0100020

基因 SLC22A5 与疾病

SLC22A5基因编码OCTN2蛋白，属于溶质载体家族。已发现60多种突变。OCTN2蛋白功能缺失可导致细胞内左旋肉碱减少，脂肪酸无法进入线粒体，影响供能。

基因名称	基因全名	基因位置	外显子个数	CDS长度
SLC22A5	solute carrier family 22 (organic cation/carnitine transporter), member 5	5q23.3	10	约3280 bp
基因摘要	Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. The encoded protein is a plasma integral membrane protein which functions both as an organic cation transporter and as a sodium-dependent high affinity carnitine transporter. The encoded protein is involved in the active cellular uptake of carnitine. Mutations in this gene are the cause of systemic primary carnitine deficiency (CDSP), an autosomal recessive disorder manifested early in life by hypoketotic hypoglycemia and acute metabolic decompensation, and later in life by skeletal myopathy or cardiomyopathy. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2015].