DGKE wt Allele

Preferred Label : DGKE wt Allele;

NCIt synonyms : Diacylglycerol Kinase, Epsilon (64kD) Gene; AHUS7; DAGK5; DAGK6; Diacylglycerol Kinase, Epsilon-64kD Gene; Diacylglycerol Kinase Epsilon wt Allele; Diacylglycerol Kinase, Epsilon 64kDa Gene; DGK; NPHS7;

NCIt definition : Human DGKE wild-type allele is located in the vicinity of 17q22 and is approximately 35 kb in length. This allele, which encodes diacylglycerol kinase epsilon protein, is involved in lipid phosphorylation. Mutation of the gene is associated with nephrotic syndrome type 7 and susceptibility to early-onset atypical hemolytic uremic syndrome 7.;

GenBank Accession Number : U49379;

Details

Origin ID

C200776;

OMIM relation
- Diacylglycerol kinase, epsilon, 64-kd [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- Glycerolipid Metabolism Pathway [NCIt concept]
- Glycerophospholipid Metabolism Pathway [NCIt concept]
- Phosphatidylinositol Signaling System Pathway [NCIt concept]
gene_plays_role_in_process
- G Protein-Coupled Receptor Signaling [NCIt concept]
- Phospholipid Metabolism [NCIt concept]
- Phosphorylation Process [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients