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]
Function:
Removes thioester-linked fatty acyl groups such as palmitate from modified cysteine residues in proteins or peptides during lysosomal degradation. Prefers acyl chain lengths of 14 to 18 carbons (PubMed:8816748)
Subcellular Location:
Lysosome.
DISEASE:
Defects in PPT1 are the cause of neuronal ceroid lipofuscinosis type 1 (CLN1) [MIM:256730]. A form of neuronal ceroid lipofuscinosis with variable age at onset. Infantile, late-infantile, juvenile, and adult onset have been reported. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. The lipopigment pattern seen most often in CLN1 is referred to as granular osmiophilic deposits (GROD).
Similarity:
Belongs to the palmitoyl-protein thioesterase family.
SWISS:
P50897
Gene ID:
5538
Database links:
Entrez Gene: 281421 Cow
Entrez Gene: 5538 Human
Entrez Gene: 19063 Mouse
Entrez Gene: 29411 Rat
Omim: 600722 Human
SwissProt: P45478 Cow
SwissProt: P50897 Human
SwissProt: O88531 Mouse
SwissProt: P45479 Rat
Unigene: 3873 Human
Unigene: 277719 Mouse
Unigene: 1574 Rat
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