PPT1 / CLN1 Antibody – Rabbit Polyclonal

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]

PPT1: 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. Defects in PPT1 are the cause of neuronal ceroid lipofuscinosis type 1 (CLN1). 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). Belongs to the palmitoyl-protein thioesterase family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Lipid Metabolism - fatty acid elongation in mitochondria; EC 3.1.2.22; Hydrolase

Chromosomal Location of Human Ortholog: 1p32

Cellular Component: axon; cell soma; cytosol; dendrite; extracellular region; extracellular space; Golgi apparatus; lipid raft; lysosomal lumen; lysosome; membrane; nucleus; synaptic vesicle

Molecular Function: palmitoyl-(protein) hydrolase activity; palmitoyl-CoA hydrolase activity

Biological Process: adult locomotory behavior; associative learning; brain development; cellular lipid metabolic process; cellular protein catabolic process; cofactor metabolic process; cofactor transport; grooming behavior; lipid catabolic process; lipid raft organization and biogenesis; lysosomal lumen acidification; negative regulation of apoptosis; negative regulation of cell growth; negative regulation of neuron apoptosis; nervous system development; neuron development; neurotransmitter secretion; pinocytosis; positive regulation of pinocytosis; positive regulation of receptor-mediated endocytosis; protein catabolic process; protein depalmitoylation; protein transport; receptor-mediated endocytosis; regulation of phospholipase A2 activity; regulation of synapse structure and activity; response to stimulus; sphingolipid catabolic process; triacylglycerol biosynthetic process; visual perception

Disease: Ceroid Lipofuscinosis, Neuronal, 1