Preferred Label : PIKFYVE wt Allele;
NCIt synonyms : PIP5K; MGC40423; Zinc Finger, FYVE Domain Containing 29 Gene; KIAA0981; CFD; Phosphatidylinositol 3-Phosphate 5-Kinase, Type III Gene; Phosphoinositide Kinase, FYVE Finger Containing Gene; HEL37; Phosphatidylinositol-3-Phosphate/Phosphatidylinositol 5-Kinase, Type III Gene; FAB1, S. cerevisiae, Homolog of Gene; Phosphoinositide Kinase, FYVE-Type Zinc Finger Containing wt Allele; ZFYVE29; FAB1;
NCIt definition : Human PIKFYVE wild-type allele is located in the vicinity of 2q34 and is approximately
93 kb in length. This allele, which encodes 1-phosphatidylinositol 3-phosphate 5-kinase
protein, is involved in the phosphorylation of phosphatidylinositol and the metabolism
of phosphatidylinositol 3,5-bisphosphate. Mutations in the gene cause corneal fleck
dystrophy.;
NCI Metathesaurus CUI : CL1643064;
GenBank Accession Number : AB023198;
Origin ID : C177254;
UMLS CUI : C5443964;
Automatic exact mappings (from CISMeF team)
- OMIM relation
- Semantic type(s)
- concept_is_in_subset
- gene_found_in_organism
- gene_in_chromosomal_location
- gene_is_element_in_pathway
- gene_plays_role_in_process
