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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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: 5-phosphohydroxy-L-lysine phospho-lyase; 5-phosphonooxy-L-lysine phospho-lyase; Alanine--glyoxylate aminotransferase 2-like 2; alanine-glyoxylate aminotransferase 2-like 2
基因别名: AGXT2L2; PHYKPL; PP9286