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- accession：NM_014324
- 基因别名：AMACR
- 基因描述：Homo sapiens alpha-methylacyl-CoA racemase (AMACR), transcript variant 1, mRNA.
- 载体：现货载体
- CDS区长度：1149
- 翻译后氨基酸长度：382
- TranscriptVariant：This variant (1) represents the longest transcript and encodes isoform 1, also referred to as AMACR IA.
- 基因简介：This gene encodes a racemase. The encoded enzyme interconverts pristanoyl-CoA and C27-bile acylCoAs between their (R)- and (S)-stereoisomers. The conversion to the (S)-stereoisomers is necessary for degradation of these substrates by peroxisomal beta-oxidation. Encoded proteins from this locus localize to both mitochondria and peroxisomes. Mutations in this gene may be associated with adult-onset sensorimotor neuropathy, pigmentary retinopathy, and adrenomyeloneuropathy due to defects in bile acid synthesis. Alternatively spliced transcript variants have been described. Read-through transcription also exists between this gene and the upstream neighboring C1QTNF3 (C1q and tumor necrosis factor related protein 3) gene. [provided by RefSeq, Mar 2011]
- 规格：10ul 质粒
CDS区参考序列： 点击查看序列翻译后氨基酸参数序列： 点击查看序列
