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PPT1 palmitoyl-protein thioesterase 1

Also known as: PPT; CLN1; INCL

Summary

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]

Genomic context

Location:
1p34.2
Sequence:
Chromosome: 1; NC_000001.11 (40072710..40097470, complement)
Total number of exons:
9

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