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]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| PPT1-20-RE | 20 (40 μL) | 200 μL |  |
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| PPT1-20-OR | 20 (40 μL) | 200 μL |  |
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| PPT1-20-GO | 20 (40 μL) | 200 μL |  |
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| PPT1-20-GR | 20 (40 μL) | 200 μL |  |
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| PPT1-20-AQ | 20 (40 μL) | 200 μL |  |
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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]
Gene Symbol : PPT1
Gene Name : Palmitoyl-protein thioesterase 1
Chromosome : CHR 1: 400,974,69-400,727,09
Locus : 1p34.2
Alt. Genes : FEM1B
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