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Immunogen sequence: DPPAPLPLVI WHGMGDSCCN PLSMGAIKKM VEKKIPGIYV LSLEIGKTLM EDVENSFFLN VNSQVTTVCQ ALAKDPKLQQ GYNAMGFSQG GQFLRAVAQR CPSPPMINLI SVGGQHQGVF GLPRCPGESS HICDFIRKTL NAGAYSKVVQ ERLVQAEYWH DPIKEDVYRN HSIFLADINQ ERGINESYKK NLMALKKFVM VKFLNDSIVD PVDSEWFGFY RSGQAKETIP LQETSLYTQD RLGLKEMDNA GQLVFLATEG DHLQLSEEWF YAHIIPFLG; Positive Samples: LO2, Mouse brain, Mouse kidney, Rat brain; Cellular Location: Lysosome
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.
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仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: 3.1.2.22; ceroid-palmitoyl-palmitoyl-protein thioesterase 1; Palmitoyl-protein hydrolase 1; Palmitoyl-protein thioesterase 1; PPT-1
基因别名: 9530043G02Rik; AA960502; C77813; CLN1; D4Ertd184e; INCL; PPT; PPT1
UniProt ID: (Human) P50897, (Rat) P45479, (Mouse) O88531
Entrez Gene ID: (Human) 5538, (Rat) 29411, (Mouse) 19063