• accession：NM_000403
• 基因别名：GALE
• 基因描述：Homo sapiens UDP-galactose-4-epimerase (GALE), transcript variant 1, mRNA.
• 载体： 现货载体
• CDS区长度：1047
• 翻译后氨基酸长度：348
• TranscriptVariant：This variant (1) represents the longest transcript. Variants 1, 2 and 3 encode the same protein.
• 基因简介：This gene encodes UDP-galactose-4-epimerase which catalyzes two distinct but analogous reactions: the epimerization of UDP-glucose to UDP-galactose, and the epimerization of UDP-N-acetylglucosamine to UDP-N-acetylgalactosamine. The bifunctional nature of the enzyme has the important metabolic consequence that mutant cells (or individuals) are dependent not only on exogenous galactose, but also on exogenous N-acetylgalactosamine as a necessary precursor for the synthesis of glycoproteins and glycolipids. Mutations in this gene result in epimerase-deficiency galactosemia, also referred to as galactosemia type 3, a disease characterized by liver damage, early-onset cataracts, deafness and mental retardation, with symptoms ranging from mild ('peripheral' form) to severe ('generalized' form). Multiple alternatively spliced transcripts encoding the same protein have been identified. [provided by RefSeq, Jul 2008]
• 载体信息：自有图片地址
• 规格：10ul 质粒

CDS区参考序列： 点击查看序列

ATGGCAGAGAAGGTGCTGGTAACAGGTGGGGCTGGCTACATTGGCAGCCACACGGTGCTGGAGCTGCTGGAGGCTGGCTACTTGCCTGTGGTCATCGATAACTTCCATAATGCCTTCCGTGGAGGGGGCTCCCTGCCTGAGAGCCTGCGGCGGGTCCAGGAGCTGACAGGCCGCTCTGTGGAGTTTGAGGAGATGGACATTTTGGACCAGGGAGCCCTACAGCGTCTCTTCAAAAAGTACAGCTTTATGGCGGTCATCCACTTTGCGGGGCTCAAGGCCGTGGGCGAGTCGGTGCAGAAGCCTCTGGATTATTACAGAGTTAACCTGACCGGGACCATCCAGCTTCTGGAGATCATGAAGGCCCACGGGGTGAAGAACCTGGTGTTCAGCAGCTCAGCCACTGTGTACGGGAACCCCCAGTACCTGCCCCTTGATGAGGCCCACCCCACGGGTGGTTGTACCAACCCTTACGGCAAGTCCAAGTTCTTCATCGAGGAAATGATCCGGGACCTGTGCCAGGCAGACAAGACTTGGAACGCAGTGCTGCTGCGCTATTTCAACCCCACAGGTGCCCATGCCTCTGGCTGCATTGGTGAGGATCCCCAGGGCATACCCAACAACCTCATGCCTTATGTCTCCCAGGTGGCGATCGGGCGACGGGAGGCCCTGAATGTCTTTGGCAATGACTATGACACAGAGGATGGCACAGGTGTCCGGGATTACATCCATGTCGTGGATCTGGCCAAGGGCCACATTGCAGCCTTAAGGAAGCTGAAAGAACAGTGTGGCTGCCGGATCTACAACCTGGGCACGGGCACAGGCTATTCAGTGCTGCAGATGGTCCAGGCTATGGAGAAGGCCTCTGGGAAGAAGATCCCGTACAAGGTGGTGGCACGGCGGGAAGGTGATGTGGCAGCCTGTTACGCCAACCCCAGCCTGGCCCAAGAGGAGCTGGGGTGGACAGCAGCCTTAGGGCTGGACAGGATGTGTGAGGATCTCTGGCGCTGGCAGAAGCAGAATCCTTCAGGCTTTGGCACGCAAGCCTGA

翻译后氨基酸参数序列： 点击查看序列

ATGGCAGAGAAGGTGCTGGTAACAGGTGGGGCTGGCTACATTGGCAGCCACACGGTGCTGGAGCTGCTGGAGGCTGGCTACTTGCCTGTGGTCATCGATAACTTCCATAATGCCTTCCGTGGAGGGGGCTCCCTGCCTGAGAGCCTGCGGCGGGTCCAGGAGCTGACAGGCCGCTCTGTGGAGTTTGAGGAGATGGACATTTTGGACCAGGGAGCCCTACAGCGTCTCTTCAAAAAGTACAGCTTTATGGCGGTCATCCACTTTGCGGGGCTCAAGGCCGTGGGCGAGTCGGTGCAGAAGCCTCTGGATTATTACAGAGTTAACCTGACCGGGACCATCCAGCTTCTGGAGATCATGAAGGCCCACGGGGTGAAGAACCTGGTGTTCAGCAGCTCAGCCACTGTGTACGGGAACCCCCAGTACCTGCCCCTTGATGAGGCCCACCCCACGGGTGGTTGTACCAACCCTTACGGCAAGTCCAAGTTCTTCATCGAGGAAATGATCCGGGACCTGTGCCAGGCAGACAAGACTTGGAACGCAGTGCTGCTGCGCTATTTCAACCCCACAGGTGCCCATGCCTCTGGCTGCATTGGTGAGGATCCCCAGGGCATACCCAACAACCTCATGCCTTATGTCTCCCAGGTGGCGATCGGGCGACGGGAGGCCCTGAATGTCTTTGGCAATGACTATGACACAGAGGATGGCACAGGTGTCCGGGATTACATCCATGTCGTGGATCTGGCCAAGGGCCACATTGCAGCCTTAAGGAAGCTGAAAGAACAGTGTGGCTGCCGGATCTACAACCTGGGCACGGGCACAGGCTATTCAGTGCTGCAGATGGTCCAGGCTATGGAGAAGGCCTCTGGGAAGAAGATCCCGTACAAGGTGGTGGCACGGCGGGAAGGTGATGTGGCAGCCTGTTACGCCAACCCCAGCCTGGCCCAAGAGGAGCTGGGGTGGACAGCAGCCTTAGGGCTGGACAGGATGTGTGAGGATCTCTGGCGCTGGCAGAAGCAGAATCCTTCAGGCTTTGGCACGCAAGCCTGA