人 PHYKPL (NM_001278346) cDNA克隆

Accession: NM_001278346
基因名称: PHYKPL
基因别名: PHLU; AGXT2L2
基因描述: Homo sapiens 5-phosphohydroxy-L-lysine phospho-lyase (PHYKPL), transcript variant 3, mRNA.
种属: Human
CDS区长度: 1230 (查看编码区序列)
翻译后氨基酸长度: 409 (查看氨基酸序列)
Transcript Variant: This variant (3) uses an alternate splice site at the 5' exon and initiates translation at a downstream in-frame start codon, compared to variant 2. The encoded isoform (3) has a shorter N-terminus, compared to isoform 2.
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G107869 人 PHYKPL (NM_001278346) cDNA克隆 pDONR223 2ug质粒 点击询价

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]