PIKFYVE belongs to an evolutionarily ancient gene family of phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2)enzymes. PIKFYVE gene is located on human chromosome 2q34. Anti-PIP5K antibody detects endogenous levels of total PIP5K protein.
Immunogen
The antiserum was produced against synthesized peptide derived from human PIP5K.
Immunogen Range: 71-120
Biochem/physiol Actions
Phosphatidylinositol 4-phosphate 5-kinase (PIP5K)/Phosphoinositide kinase, FYVE-type zinc finger containing (PIKFYVE) protein plays a key role in phosphoinositide 5-kinase and protein kinase activity. It is essential for post-Golgi vesicle processing. Mutation in the PIKFYVE gene is associated with fleck corneal dystrophy (FCD).
Features and Benefits
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Physical form
Rabbit IgG in phosphate buffered saline (without Mg2+ and Ca2+), pH 7.4, 150mM NaCl, 0.02% sodium azide and 50% glycerol.
Disclaimer
Unless otherwise stated in our catalog or other company documentation accompanying the product(s), our products are intended for research use only and are not to be used for any other purpose, which includes but is not limited to, unauthorized commercial uses, in vitro diagnostic uses, ex vivo or in vivo therapeutic uses or any type of consumption or application to humans or animals.
Yeast Fab1 is a phosphatidylinositol 3-phosphate 5-kinase involved in endocytic membrane traffic and vacuole homeostasis. Here we have cloned and sequenced the cDNA for the human homologue of Fab1, PIKfyve. The cDNA has an open reading frame of 6294 bp
To report the identification of a novel frameshift mutation and copy number variation (CNV) in PIKFYVE in two probands with fleck corneal dystrophy (FCD). Slit-lamp examination was performed to identify characteristic features of FCD. After genomic DNA was collected, PCR
To report the findings of the clinical and molecular evaluation in a Greek family with fleck corneal dystrophy (CFD). A 58-year-old woman was seen on routine ophthalmic examination and diagnosed as having CFD. All available family members were examined to
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