Gene: PHYKPL

Alternate names for this Gene: AGXT2L2|PHLU

Gene Summary: 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.

Gene is located in Chromosome: 5

Location in Chromosome : 5q35.3

Description of this Gene: 5-phosphohydroxy-L-lysine phospho-lyase

Type of Gene: protein-coding

rs1366223 in PHYKPL gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

rs142181517 in PHYKPL gene and Phosphohydroxylysinuria PMID 23242558 2013 Mutations in the AGXT2L2 gene cause phosphohydroxylysinuria.