Primary Identifier | IPR030294 | Type | Family |
Short Name | PPT1 |
description | Palmitoyl-protein thioesterase 1 (PPT1) is responsible for the removal of a palmitate group from its substrate proteins, which may include presynaptic proteins like SNAP-25, cysteine string protein (CSP), dynamin, and synaptotagmin []. Mutations in the PPT1 gene cause infantile-onset neuronal ceroid lipofuscinosis (INCL), which is a severe pediatric neurodegenerative disorder []. This entry also includes uncharacterised proteins from fungi and plants. |