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Proteintech
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Immunogen sequence: MASPGCLWL LAVALLPWTC ASRALQHLDP PAPLPLVIWH GMGDSCCNPL SMGAIKKMVE KKIPGIYVLS LEIGKTLMED VENSFFLNVN SQVTTVCQAL AKDPKLQQGY NAMGFSQGGQ FLRAVAQRCP SPPMINLISV GGQHQGVFGL PRCPGESSHI CDFIRKTLNA GAYSKVVQER LVQAEYWHDP IKEDVYRNHS IFLADINQER GINESYKKNL MALKKFVMVK FLNDSIVDPV DSEWFGFYRS GQAKETIPLQ ETSLYTQDRL GLKEMDNAGQ LVFLATEGDH LQLSEEWFYA HIIPFLG (1-306 aa encoded by BC008426)
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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