EC Number   |
Natural Substrates |
|---|
    3.1.2.22 | more |
epileptic seizures in adult rats lead to progressive and remarkable increase in enzyme activity inlimbic areas of the brain, the enzyme may protect neurons from excitotoxicity and have a role in synaptic plasticity, enzyme deficiency causes progressive neurological disorder infantile neuronal ceroid lipofuscinosis, INCL |
| 3.1.2.22 | more |
in palmitoyl-protein thioesterase-1-knockout mice (that mimic human infantile neuronal ceroid lipofuscinosis) the endoplasmic reticulum in the brain cells is structurally abnormal. Palmitoyl-protein thioesterase-1 deficiency mediates the activation of the unfolded protein response and neuronal apoptosis in human infantile neuronal ceroid lipofuscinosis |
| 3.1.2.22 | more |
mutations in the enzyme protein cause the neurodegenerative disorder infantile neuronal ceroid lipofuscinosis |
| 3.1.2.22 | more |
no effect on palmitoylation of endothelial nitric oxide synthase |
| 3.1.2.22 | palmitoyl-[protein] + H2O |
palmitoylation plays critical roles in diverse biological functions, including membrane anchorage, vesicular transport, signal transduction and the maintenance of cellular architecture |
| 3.1.2.22 | more |
PPT1 deficiency causes progressive neurological disorder infantile neuronal ceroid lipofuscinosis, INCL |
| 3.1.2.22 | more |
PPT1 deficiency causes progressive neurological disorder infantile neuronal ceroid lipofuscinosis, only in neurons of the cerebral and cerbellar cortexes and retina not in other cell types, characterized by early loss of vision and massiv neuronal death |
| 3.1.2.22 | more |
PPT1 deficiency causes, together with tripeptidyl peptidase 1 deficiency, progressive neurological disorder infantile neuronal ceroid lipofuscinosis, a group of at least 8 inherited, progressive encephalopathies that are characterized by lipofuscin-like inclusions in various tissues and have been classified as CNL1-CNL8 |
| 3.1.2.22 | more |
PPT1 deficiency leads to abnormally low levels of soluble synaptic vesicle proteins like synaptobrevin 2 and SNAP25, that are known to undergo palmitoylation and are critical for fusion, exocytosis, recycling, and regeneration of fresh synaptic vesicles |
| 3.1.2.22 | more |
Ppt1 modulates the activity of several pathways known to play a role in synaptic development either directly through its depalmitoylation activity or indirectly through effects on general endocytic mechanisms |
