Aliases for PHYKPL Gene
External Ids for PHYKPL Gene
Previous HGNC Symbols for PHYKPL Gene
Previous GeneCards Identifiers for PHYKPL Gene
This is a nuclear gene encoding a mitochondrial enzyme that catalyzes the conversion of 5-phosphonooxy-L-lysine to ammonia, inorganic phosphate, and 2-aminoadipate semialdehyde. Mutations in this gene may cause phosphohydroxylysinuria. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]
GeneCards Summary for PHYKPL Gene
PHYKPL (5-Phosphohydroxy-L-Lysine Phospho-Lyase) is a Protein Coding gene. Diseases associated with PHYKPL include Phosphohydroxylysinuria. Among its related pathways are Degradation of the extracellular matrix and Lysine degradation. Gene Ontology (GO) annotations related to this gene include pyridoxal phosphate binding and transaminase activity. An important paralog of this gene is ETNPPL.
UniProtKB/Swiss-Prot Summary for PHYKPL Gene
Catalyzes the pyridoxal-phosphate-dependent breakdown of 5-phosphohydroxy-L-lysine, converting it to ammonia, inorganic phosphate and 2-aminoadipate semialdehyde.