Disease-gene associations mined from literature

Literature associating PPT1 and visual epilepsy

PPT1 [ENSP00000394863]

Palmitoyl-protein thioesterase 1; Removes thioester-linked fatty acyl groups such as palmitate from modified cysteine residues in proteins or peptides during lysosomal degradation. Prefers acyl chain lengths of 14 to 18 carbons; Belongs to the palmitoyl-protein thioesterase family.

Synonyms:  PPT1,  PPT1p,  hPPT1,  E9PIA8,  E9PK48 ...

Linkouts:  STRING  Pharos  UniProt  OMIM