Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
貨期:
Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
用途:
For Research Use Only. Not for use in diagnostic or therapeutic procedures.
Key enzyme in the regulation of glycerol uptake and metabolism.
基因功能參考文獻:
Both patients were found to have Xp21.2 deletions involving all coding seqeunces of the glycerol kinase (GK) gene. PMID: 27087023
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
missense mutations and deletions in glycerol kinase is associated with persistent hypertriglyceridemia PMID: 12636049
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
Comparison of expression patterns, as well as enzymatic characteristics and subcellular localization of alternatively spliced glycerol kinase isoforms. PMID: 15845384
Results suggest that influences on RNA processing and protein stability represent modifiers of the glycerol kinase deficiency phenotype. PMID: 16549535
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相關疾病:
Glycerol kinase deficiency (GKD)
亞細胞定位:
Mitochondrion outer membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm. Note=In sperm and fetal tissues, the majority of the enzyme is bound to mitochondria, but in adult tissues, such as liver found in the cytoplasm.
蛋白家族:
FGGY kinase family
組織特異性:
Highly expressed in the liver, kidney and testis. Isoform 2 and isoform 3 are expressed specifically in testis and fetal liver, but not in the adult liver.