PRICKLE1 wt Allele

Preferred Label : PRICKLE1 wt Allele;

NCIt synonyms : Prickle, Drosophila, Homolog of, 1 Gene; Prickle Homolog 1 (Drosophila) Gene; EPM1B; Prickle Planar Cell Polarity Protein 1 wt Allele; RILP; FLJ31937; Prickle-Like 1 (Drosophila) Gene;

NCIt definition : Human PRICKLE1 wild-type allele is located in the vicinity of 12q12 and is approximately 134 kb in length. This allele, which encodes prickle-like protein 1, plays a role in the negative regulation of Wnt signaling and in embryonic development. Mutation of the gene is associated with progressive myoclonic epilepsy 1B.;

NCI Metathesaurus CUI : CL508044;

GenBank Accession Number : AK056499;

Details

Origin ID

C126759;

UMLS CUI

C4284043;

Automatic exact mappings (from CISMeF team)
- Prickle planar cell polarity protein 1 [OMIM gene]
- Prickle1-Related Progressive Myoclonic Epilepsy with Ataxia [MeSH Supplementary Concept]
- Rab-interacting lysosomal protein [OMIM gene]
- prickle planar cell polarity protein 1 [ORDO Gene]
- progressive myoclonus epilepsy 1B [DO Concept]
OMIM relation
- Prickle planar cell polarity protein 1 [OMIM gene]
See also inter- (CISMeF)
- Epilepsy, progressive myoclonic, 1b [OMIM Phenotype]
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
- 12q12 [NCIt concept]
gene_is_element_in_pathway
- Wnt Signaling Pathway KEGG [NCIt concept]
gene_plays_role_in_process
- Morphogenesis [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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