Gene Symbol | PHYKPL |
Entrez Gene ID | 85007 |
Full Name | 5-phosphohydroxy-L-lysine phospho-lyase |
Synonyms | AGXT2L2,PHLU |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | [?Phosphohydroxylysinuria], 615011 (3) |