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The protein encoded by GK belongs to the FGGY kinase family.
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Both patients were found to have Xp21.2 deletions involving all coding seqeunces of the glycerol kinase (GK) gene.
Two siblings with the contiguous X-linked gene deletion syndrome, complex glycerol kinase deficiency, are described. The elder sibling demonstrates the difficulties diagnosing this rare condition.
missense mutations and deletions in glycerol kinase is associated with persistent hypertriglyceridemia
a functional HNF-4alpha (显示 HNF4A ELISA试剂盒) binding site in the first 500 bp of the 5(') upstream region is important for increased levels of glycerol kinase expression
Comparison of expression patterns, as well as enzymatic characteristics and subcellular localization of alternatively spliced glycerol kinase isoforms.
Results suggest that influences on RNA processing and protein stability represent modifiers of the glycerol kinase deficiency phenotype.
Gyk deficient mice show a change in phosphlipid and cholestesrol mass in several organs.
AQP7 disruption elevates adipose glycerol kinase activity, accelerates triglycerides synthesis in adipocytes, and, finally, develops obesity.
Gyk deletion causes alterations in expression of genes in several regulatory networks; the first time network component analysis has been used to expand on microarray data from a mouse knockout model of a human disease
PPAR-gamma (显示 PPARG ELISA试剂盒), SREBP-1 (显示 SREBF1 ELISA试剂盒), SREBP-2 (显示 SREBF2 ELISA试剂盒), STAT3 (显示 STAT3 ELISA试剂盒), STAT5 (显示 STAT5A ELISA试剂盒), SP1 (显示 SP1 ELISA试剂盒), CEBPalpha, CREB (显示 CREB1 ELISA试剂盒), GR and PPAR-alpha (显示 PPARA ELISA试剂盒) have altered activity in glycerol kinase knockout mice.
Network component analysis demonstrated that transcription factors decreased in the Gyk KO mice.
GK may have an apoptotic moonlighting role that is lost in glycerol kinase deficiency.
The protein encoded by this gene belongs to the FGGY kinase family. This protein is a key enzyme in the regulation of glycerol uptake and metabolism. It catalyzes the phosphorylation of glycerol by ATP, yielding ADP and glycerol-3-phosphate. Mutations in this gene are associated with glycerol kinase deficiency (GKD). Alternatively spliced transcript variants encoding different isoforms have been found for this gene.
, glycerol kinase
, ATP-stimulated glucocorticoid-receptor translocation promoter
, ATP-stimulated glucocorticoid-receptor translocaton promoter
, glycerol kinase 2
, Glycerol kinase
, Fanconi anemia core complex 100 kDa subunit-like