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EC Number
Natural Substrates
Commentary (Nat. Sub.)
palmitoyl-[protein] + H2O
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altough the ppt-1 gene is not essential for the animal‘s survival, its mutation results in a mild developmental and reproductive phenotype, affects the number and size of mitochondria and results in an abnormality in mitochondrial morphology
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defect in the palmitoyl-(protein) hydrolase gene causes a neurodegenerative disorder. Depalmitoylation of the still uncharacterized substrate(s) of the enzyme is critical for postnatal development or maintainance of cortical neurons
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depalmitoylation reaction, palmitoylation is the post-translational addition of a palmitate moiety to a cysteine residue through a covalent thioester bond
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enzyme deficiency causes infantile neuronal ceroid lipofuscinosis, the enzyme plays an important role in the development of the CNS
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enzyme deficiency causes progressive neurological and granular osmiophilic deposits, GROD, and infantile neuronal ceroid lipofuscinosis
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enzyme deficiency causes progressive neurological disorder infantile neuronal ceroid lipofuscinosis, INCL
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enzyme deficiency causes progressive neurological disorder infantile neuronal ceroid lipofuscinosis, INCL, a lysosomal storage disorder
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enzyme deficiency causes progressive neurological disorder infantile neuronal ceroid lipofuscinosis, INCL, molecular basis
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enzyme deficiency causes the infantile form of neuronal ceroid lipofuscinosis INCL, a progressive encephalopathyof children
Results 1 - 10 of 25 > >>