PORCN wt Allele

Preferred Label : PORCN wt Allele;

NCIt synonyms : FODH; PPN; PORC; Porcupine, Drosophila, Homolog of Gene; Dermal Hypoplasia, Focal Gene; por; MG61; DHOF; Porcupine Homolog (Drosophila) wt Allele;

NCIt definition : Human PORCN wild-type allele is located in the vicinity of Xp11.23 and is approximately 12 kb in length. This allele, which encodes protein-serine O-palmitoleoyltransferase porcupine protein, plays a role in post-translational modification of Wnt family proteins. Mutation of the gene is associated with focal dermal hypoplasia.;

NCI Metathesaurus CUI : CL520374;

GenBank Accession Number : AF317058;

Details

Origin ID

C132190;

UMLS CUI

C4321240;

Automatic exact mappings (from CISMeF team)
- Cytochrome p450 oxidoreductase [OMIM gene]
- Focal dermal hypoplasia [OMIM Phenotype]
- NADPH-hemoprotein reductase activity [GO term]
- Papilin, proteoglycan-like sulfated glycoprotein [OMIM gene]
- Porcupine o-acyltransferase [OMIM gene]
- Pork [LOINC component]
- Porphyria, acute intermittent [OMIM Phenotype]
- focal dermal hypoplasia [DO Concept]
- focal dermal hypoplasia [MeSH Descriptor]
- porcupine O-acyltransferase [ORDO Gene]
- swine [MeSH Descriptor]
OMIM relation
- Porcupine o-acyltransferase [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_in_chromosomal_location
- Xp11.23 [NCIt concept]
gene_is_element_in_pathway
- Wnt Signaling Pathway KEGG [NCIt concept]
gene_plays_role_in_process
- Lipid Metabolic Process [NCIt concept]
- Post-Translational Modification [NCIt concept]

Keyword's position in hierarchy(ies) :

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