Entrez 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. [provided by RefSeq, May 2013].
UniProt Summary: Catalyzes the pyridoxal-phosphate-dependent breakdown of 5-phosphohydroxy-L-lysine, converting it to ammonia, inorganic phosphate and 2-aminoadipate semialdehyde. {ECO:0000269|PubMed:22241472}.
Pfam DomainsGO Terms
Pfam Domains
Aminotran 3
GO Terms
transaminase activity
lysine catabolic process
lysine metabolic process
lyase activity
aspartate family amino acid catabolic process
collagen catabolic process
aspartate family amino acid metabolic process
pyridoxal phosphate binding
collagen metabolic process
alpha-amino acid catabolic process
cellular amino acid catabolic process
alpha-amino acid metabolic process
organic acid catabolic process
carboxylic acid catabolic process
cellular amino acid metabolic process
mitochondrial matrix
small molecule catabolic process
carboxylic acid metabolic process
oxoacid metabolic process
organic acid metabolic process
organonitrogen compound catabolic process
identical protein binding
small molecule metabolic process
organic substance catabolic process
cellular catabolic process
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)