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]
Overall distribution
Tissue specific distribution
Overall distribution
Tissue specific distribution
Gscore (Amp):
0.43
Gscore (Del):
0.12
Recurrently amplified in 2 cancer type(s)
Recurrently deleted in 1 cancer type(s)
Overall distribution
Tissue specific distribution
Mscore:
0.02
Recurrently mutated in 1 cancer type(s)
Overall
Tissue specific
Total fusion occurrence:
NA
Overall
Tissue specific
Functional class:
Enzyme
JensenLab PubMed score:
4.65 (Percentile rank: 25.81%)
PubTator score:
5.67 (Percentile rank: 30.63%)
Target development/druggability level:
TdarkThese are targets about which virtually nothing is known. They do not have known drug or small molecule activities that satisfy the activity thresholds detailed below AND satisfy two or more of the following criteria: 1) A PubMed text-mining score from Jensen Lab < 5; 2) <= 3 Gene RIFs; 3) <= 50 Antibodies available according to http://antibodypedia.com.
