靶标:
PPT1
产品别名:
CLN1; INCL; PPT; PPT1; palmitoyl-protein thioesterase 1; palmitoyl-protein thioesterase 1; palmitoyl-protein thioesterase 1; ceroid-palmitoyl-palmitoyl-protein thioesterase 1; palmitoyl-protein hydrolase 1; 棕榈酰蛋白硫酯酶1; 棕榈酰蛋白硫酯酶1(PPT1);
背景信息:
The protein encoded by this gene is a small glycoprotein involved in the catabolism of lipid-modified proteins during lysosomal degradation. The encoded enzyme removes thioester-linked fatty acyl groups such as palmitate from cysteine residues. Defects in this gene are a cause of infantile neuronal ceroid lipofuscinosis 1 (CLN1, or INCL) and neuronal ceroid lipofuscinosis 4 (CLN4). Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Dec 2008],