Reactivities: | Human |
Presku: | AAP61425 |
Size: | 100ug |
Weight: | 34kDa |
Gene: | The peptide is characterized by mass spectroscopy |
Format: | Lyophilized powder |
Target: | 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. |
Alternative names: | CLN1; INCL; PPT |