Acetyl-EPAS-1 (K385) Polyclonal Antibody, 20ul DNA Synthesis Mutations in PHYKPL (5-phosphohydroxy-L-lysine phospho-lyase)

Mutations in PHYKPL (5-phosphohydroxy-L-lysine phospho-lyase) may cause phosphohydroxylysinuria

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Acetyl-EPAS-1 (K385) Polyclonal Antibody, 20ul DNA Synthesis Mutations in PHYKPL (5-phosphohydroxy-L-lysine phospho-lyase)EPAS1 (endothelial PAS domain protein 1) encodes a transcription factor involved in the induction of genes regulated by oxygen, which is induced as oxygen levels fall. The encoded protein contains a basic helix loop helix domain protein dimerization domain as well as a domain found in proteins in signal transduction pathways which respond to oxygen levels. Mutations in EPAS1 are associated with erythrocytosis familial type 4.