人 DDC (NM_001242889) cDNA克隆

Accession: NM_001242889
基因名称: DDC
基因别名: AADC
基因描述: Homo sapiens dopa decarboxylase (aromatic L-amino acid decarboxylase) (DDC), transcript variant 6, mRNA.
种属: Human
CDS区长度: 1164 (查看编码区序列)
翻译后氨基酸长度: 387 (查看氨基酸序列)
Transcript Variant: This variant (6) lacks in-frame two consecutive coding exons, compared to variant 2. The resulting isoform (5) lacks an internal segment, compared to isoform 1.
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G106832 人 DDC (NM_001242889) cDNA克隆 pDONR223 2ug质粒 点击询价

The encoded protein catalyzes the decarboxylation of L-3,4-dihydroxyphenylalanine (DOPA) to dopamine, L-5-hydroxytryptophan to serotonin and L-tryptophan to tryptamine. Defects in this gene are the cause of aromatic L-amino-acid decarboxylase deficiency (AADCD). AADCD deficiency is an inborn error in neurotransmitter metabolism that leads to combined serotonin and catecholamine deficiency. Multiple alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2011]