Palmitoyl protein thioesterase: Difference between revisions
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===Mutations leading to Juvenile Neuronal Ceroid Lipofuscinosis=== | ===Mutations leading to Juvenile Neuronal Ceroid Lipofuscinosis=== | ||
JNCL is caused by a mutation in the CLN3 gene which codes for a lysosomal membrane protein of unknown function <ref name="Ryan-3">PMID:9151311</ref>. Unlike the mutations that cause INCL and LINCL, mutations that lead to JNCL are located away from the active site and are seen to cause less damage to the overall structure of PPT-1. Some of the mutations in JNCL have been noted as retaining a low level of PPT-1 activity as the catalytic site is left fairly unperturbed. Mutations associated with JNCl are found in two locations, Thr75Pro with Asp79Gly and <scene name='58/580837/Juvenile_mutation/4'>Tyr247His with Gly250Val</scene>. These mutations occur in conjugate with its other pair and are predicted to disturb the geometry of helix α1, increasing the flexibility of the region, and alter the antiparallel βsheet motif in sheets βa and βb compared to the <scene name='58/580837/Tyrosine_normal/2'>normal Tyr-247 and Gly-250</scene>. | JNCL is caused by a mutation in the CLN3 gene which codes for a lysosomal membrane protein of unknown function <ref name="Ryan-3">PMID:9151311</ref>. Unlike the mutations that cause INCL and LINCL, mutations that lead to JNCL are located away from the active site and are seen to cause less damage to the overall structure of PPT-1. Some of the mutations in JNCL have been noted as retaining a low level of PPT-1 activity as the catalytic site is left fairly unperturbed. Mutations associated with JNCl are found in two locations, Thr75Pro with Asp79Gly and <scene name='58/580837/Juvenile_mutation/4'>Tyr247His with Gly250Val</scene>. These mutations occur in conjugate with its other pair and are predicted to disturb the geometry of helix α1, increasing the flexibility of the region, and alter the antiparallel βsheet motif in sheets βa and βb compared to the <scene name='58/580837/Tyrosine_normal/2'>normal Tyr-247 and Gly-250</scene>. | ||
=3D structures of palmitoyl protein thioesterase= | |||
[[Thioesterase]] | |||
</StructureSection> | </StructureSection> | ||