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FLASH GENE

Symbol

PPT1

contributors: mct - updated : 28-06-2016

HGNC name	palmitoyl-protein thioesterase 1
HGNC id	9325

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

CLN1

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed metabolism lysosome   inhibition of caspase-4 activity protects PPT1 cells from undergoing apoptosis and from abnormal intracellular accumulation of fatty-acylated proteins and peptides leading to PPT1 pathogenesis metabolism lysosome   a source of recombinant PPT1 will also be useful for exploring alternative delivery methods, such as injection into brain ventricles, chemical modifications or chronic high-dose therapy metabolism lysosome   Combination small molecule PPT1 mimetic and CNS-directed gene therapy as a treatment for infantile neuronal ceroid lipofuscinosis

ANIMAL & CELL MODELS

knockout mice with neuronal ceroid lipofuscinosis