PPT1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human PPT1 wild-type allele is located in the vicinity of 1p34.2 and is approximately 26 kb in length. This allele, which encodes palmitoyl-protein thioesterase 1 protein, plays a role in the removal of fatty acyl chains from proteins or peptides during lysosomal degradation. Mutation in the gene is associated with neuronal ceroid-lipofuscinosis type 1.

**Synonyms:** - CLN1 - Ceroid-Lipofuscinosis, Neuronal 1, Infantile Gene - INCL - PPT - Palmitoyl-Protein Thioesterase 1 wt Allele - Palmitoyl-Protein Thioesterase Gene