GK Antibody, FITC conjugated

1. Both patients were found to have Xp21.2 deletions involving all coding seqeunces of the glycerol kinase (GK) gene. PMID: 27087023
2. 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. PMID: 20110216
3. missense mutations and deletions in glycerol kinase is associated with persistent hypertriglyceridemia PMID: 12636049
4. a functional HNF-4alpha binding site in the first 500 bp of the 5(') upstream region is important for increased levels of glycerol kinase expression PMID: 14654354
5. Comparison of expression patterns, as well as enzymatic characteristics and subcellular localization of alternatively spliced glycerol kinase isoforms. PMID: 15845384
6. Results suggest that influences on RNA processing and protein stability represent modifiers of the glycerol kinase deficiency phenotype. PMID: 16549535

Show More

Hide All

HGNC: 4289

OMIM: 300474

KEGG: hsa:2710

UniGene: Hs.1466