Glycerate Kinase Polyclonal Antibody, 100ul Immune Cell Analysis Mutations in PIKFYVE cause corneal

Mutations in PIKFYVE cause corneal fleck dystrophy (CFD)

The protein encoded by this gene binds to the beta-amyloid precursor protein

and barely detectable level in the peripheral leukocytes

Overexpression of this gene in mammary epithelial cells leads to sensitization of the cells to epidermal growth factor and results in a partially transformed phenotype

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Glycerate Kinase Polyclonal Antibody, 100ul Immune Cell Analysis Mutations in PIKFYVE cause cornealThis locus encodes a member of the glycerate kinase type 2 family. The encoded enzyme catalyzes the phosphorylation of (R) glycerate and may be involved in serine degradation and fructose metabolism. Decreased activity of the encoded enzyme may be associated with the disease D glyceric aciduria. Alternatively spliced transcript variants have been described.