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- accession：NM_000155
- 基因别名：GALT
- 基因描述：Homo sapiens galactose-1-phosphate uridylyltransferase (GALT), transcript variant 1, mRNA.
- 载体：现货载体
- CDS区长度：1140
- 翻译后氨基酸长度：379
- TranscriptVariant：This variant (1) represents the longer transcript and encodes the longer isoform (1).
- 基因简介：Galactose-1-phosphate uridyl transferase (GALT) catalyzes the second step of the Leloir pathway of galactose metabolism, namely the conversion of UDP-glucose + galactose-1-phosphate to glucose-1-phosphate + UDP-galactose. The absence of this enzyme results in classic galactosemia in humans and can be fatal in the newborn period if lactose is not removed from the diet. The pathophysiology of galactosemia has not been clearly defined. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
- 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
