PPT1 wt Allele

Preferred Label : PPT1 wt Allele;

NCIt synonyms : CLN1; INCL; Palmitoyl-Protein Thioesterase 1 wt Allele; Ceroid-Lipofuscinosis, Neuronal 1, Infantile Gene; PPT; Palmitoyl-Protein Thioesterase Gene;

NCIt 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.;

NCI Metathesaurus CUI : CL1647648;

GenBank Accession Number : U44772;

Details

Origin ID

C178163;

UMLS CUI

C5551050;

Automatic exact mappings (from CISMeF team)
- CLN1 disease [ORDO Disease]
- Ceroid lipofuscinosis, neuronal, 1 [OMIM Phenotype]
- Infantile neuronal ceroid lipofuscinosis [ORDO Disease]
- Palmitoyl-protein thioesterase 1 [OMIM gene]
- neuronal ceroid lipofuscinosis 1 [DO Concept]
- neuronal ceroid-lipofuscinoses [MeSH Descriptor]
- palmitoyl-protein thioesterase 1 [ORDO Gene]
- phosphoenolpyruvate:phosphate antiporter activity [GO term]
- polyphosphate:AMP phosphotransferase activity [GO term]
OMIM relation
- Palmitoyl-protein thioesterase 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- Fatty Acid Elongation Pathway in Mitochondria [NCIt concept]
- Lysosome Assembly Pathway [NCIt concept]
gene_plays_role_in_process
- Hydrolysis [NCIt concept]
- Lipid Metabolic Process [NCIt concept]
- Post-Translational Modification [NCIt concept]
- Receptor Mediated Endocytosis [NCIt concept]

Keyword's position in hierarchy(ies) :

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