PLCD1 wt Allele

Preferred Label : PLCD1 wt Allele;

NCIt synonyms : PLC-Delta-1; Phospholipase C, Delta 1 Gene; PLC-III; Phospholipase C Delta 1 wt Allele; NDNC3; Phospholipase C, Delta-1 Gene;

NCIt definition : Human PLCD1 wild-type allele is located in the vicinity of 3p22.2 and is approximately 22 kb in length. This allele, which encodes 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1 protein, plays a role in phospholipase C activity. Mutations in the gene are associated with non-syndromic congenital nail disorder 3 and familial multiple pilomatricomas.;

NCI Metathesaurus CUI : CL1928428;

GenBank Accession Number : NM_001130964;

Details

Origin ID

C206088;

OMIM relation
- Phospholipase C, delta-1 [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 3p22.2 [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Familial Multiple Pilomatricomas [NCIt concept]
gene_is_element_in_pathway
- Calcium-Mediated Signaling Pathway [NCIt concept]
- Inositol Phosphate Metabolism Pathway [NCIt concept]
- Phosphatidylinositol Signaling System Pathway [NCIt concept]
- Shigellosis Pathway [NCIt concept]
gene_plays_role_in_process
- Hydrolysis [NCIt concept]
- Phospholipid Metabolism [NCIt concept]
- Signal Transduction [NCIt concept]

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