PHYKPL gene

5-phosphohydroxy-L-lysine phospho-lyase

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

Catalyzes the pyridoxal-phosphate-dependent breakdown of 5-phosphohydroxy-L-lysine, converting it to ammonia, inorganic phosphate and 2-aminoadipate semialdehyde.

From NCBI Gene:

  • Phosphohydroxylysinuria

From UniProt:

Phosphohydroxylysinuria (PHLU): A condition characterized by elevated phosphohydroxylysine in the urine. There is no clinical phenotype associated with this finding other than the urinary metabolites. [MIM:615011]

Cytogenetic Location: 5q35.3, which is the long (q) arm of chromosome 5 at position 35.3

Molecular Location: base pairs 178,208,474 to 178,232,822 on chromosome 5 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 5q35.3, which is the long (q) arm of chromosome 5 at position 35.3
  • AGXT2L2
  • PHLU