人 GALT (NM_000155) cDNA克隆

Accession: NM_000155
基因名称: GALT
基因描述: Homo sapiens galactose-1-phosphate uridylyltransferase (GALT), transcript variant 1, mRNA.
种属: Human
CDS区长度: 1140 (查看编码区序列)
翻译后氨基酸长度: 379 (查看氨基酸序列)
Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
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G101506 人 GALT (NM_000155) cDNA克隆 pDONR223 2ug质粒 点击询价

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]