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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for GALE (Homo sapiens) (Information is obtained from NCBI Gene database)

Entrez gene ID 2582 Official gene symbol GALE Full name UDP-galactose-4-epimerase Aliases ,FLJ95174,FLJ97302,SDR1E1, Gene summary 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] Location Chromosome: 1   Locus: 1p36-p35 Gene position 24127294 - 24122089  Map Viewer Gene orientation minus Gene size 5206 bp Gene sequence >GALE:complement(10802177..10807382):Length=5206 GCCGGAGTGGGCCGTCAGCACTTAAAGGGCCCGCGGCTCGGGCGTAGGAGGCGGTGCCTC TGCAGCAAGCGTGGGGCGCGGGAACCCGAGCAGGTTCGGGAGACGGAATGAAGGGCCGGG TGGGCTCGCGAGGGGCCGGGGAGTCCGCGGGGAGCGAGGGAGTTTCCGAGGGGCGGGTCG TGTTCCTGGCAGCGTCCCTCCAGGGCAGGCCCGCCCCCTTTGTCCCAGTTCCCCGCTGCC CGGGCTGGGGCGGCCGGGGTTCATTCATTGCCGGCCTGAGGACTCCTAGCTCGGCCCCGC TCCGCGCTACAGCCCAAAGCCCAGCCTGAGACCCAGCCGCCCTCGTATGCCCACGGCCTA GCTCCCCTTCCCTCCAACAGACAGACTGGGAAAACCGAGTGGGCGACGGCTGAGCAAGGT CACTCCGCTGTCGGGGGCGCAGCCGGCCTCAGACCAGCTTTCGTGCTTCCCAGGGCCTCT CTGCGACCACTTTCGGGGTCCGCGCCAGGCGCGGGGCGGGGGCGGGGGCGGCTTCGGCGC GGCGGGCAGAGTCCAGCGGGCAGCGGTGGGGGAAGGGCGAGCCGCCTGGGGAGAGGGCCG GGCTGCGAGCCTGGCGATCCAGATTCCAGCCCGCTGTCGCCAGCTGTGGGACCGAAGGGC AACTGTTTCACCTCTCTGGCCCTAGTATCTGTATCTGTAAAGTGCCAGTGATAACACCTG TCTCACCGAGATGCTGGGGGAATTCAGGAAAATCATGCAAAAGTGCCTGGTACGGAGCCT GGCACGCAGAGGGCTCTTGGTCAAGTGGGTTGGAGCTGCGTGAGCCCAGAAGGGGATAGA GGCAGCGTGGAGGAAGGCGGCAGCGGGCCCGGTCGCTGGGAATGAAAGGCCTCAGTGTCT GGGGCTTCCTCCCCGTACTACCCGCAGAGTTTGTTCAGGGTGGAGGTGCGCACCTGGCCA AGTCCACGTCTACACGGCCCACCCAGAGTAGCCTAAGTTGGGCGGGATTCCTAACTCTGA GCCAGGAGTGACCGGGCTGGCCCTGGCATGGGCAGAGGCTGAGCGGGGGTTGGGGTGGGG CCCCCTCCAGGACCAACCACGGTGTGGTTGCCCCTGAGCTGGCCTCAGCCTGCCTGGCAA AGGACCTCACCCTTGAGGCCATGTGATCTATTTCCTGCTTCCTCCCAGCTGACCCTTGAG GGAAAGGGGGTGGGGGCCGCCTAGAGCAGGAGGTATTAGTCACTGCGCCCAGGAGCCAGT TTACACCTAGCGAAGGCGGAGGCATTGGACAAGCCTGGGTCTGAGCAGACAGAACCCCTT CCTGCGACCCTGGAGTCCCAATCGTGCTGCCATTTTCCTTCTGCCCAGGACTCTCCAGTC CTCAGTCACCTTGGACAAAGAAGTGTGGATCCTCAGATTCCATCTTTTCCAACTCCAAGG CAAGTGGAACTAGAAAATAAGGTGCCTGTGTGTCAGGTCTCCCCAGCTCTGCTGTGGCGG GCCCTTAAGATCACCTCACTGAACCCTCACGCTGCCTCATGAAGTTTATACAATTATTAG CTCTGTTTTACAGAGATAGAAACTGAGGCCAAGAGGCTAATTAATTTCCAAAGCCTAAGG CCAGAAAGTGATGGTACCCAGACTTGCCCCAGGGCTGACTTCTGAGCCAGTCTGGTACCT AGGGCACACTGCCGCCTCCTTCCAAAGCGAGCTTAGGGGGCAGGATTCCAGTGGGAAGGA AGCTCTGAGCAGGCAGCCTCAGCCACCTCTGAGACTCTGTATCCTGGGCCAGGTGCCATG GCAGAGAAGGTGCTGGTAACAGGTGGGGCTGGCTACATTGGCAGCCACACGGTGCTGGAG CTGCTGGAGGCTGGCTACTTGCCTGTGGTCATCGATAACTTCCATAATGCCTTCCGTGGT GAGCGGGGCAGTGGGGCTGGGGCTACTTGAGGGGATGGCAGAAGCAAAACCCTGGGTTCC ACCTCCACCACCGGGCGGGGAATGTGTGTCTGGCTAGTCCCTGGGAACACAGCACCCCAT GTCGTGATGATGTGGCCTACATGTACCCTACCAGGAGGGGGCTCCCTGCCTGAGAGCCTG CGGCGGGTCCAGGAGCTGACAGGCCGCTCTGTGGAGTTTGAGGAGATGGACATTTTGGAC CAGGGAGCCCTACAGCGTCTCTTCAAAAAGGTGGGTGCAGGCTGGGCACGGTGGCTCACG CCTGTAATTCCAGCACTTTGGAAGGCCGAGGTGAGGAGATCACTTGAGCCCAGGTGTTCA AGACCAGCCTGCTCAACACAGTGAAACCCCATCTCTACAGAAAAATACAAAAATTAGCTG GGCATGGTAGCCCATACCTGTGGTCCCAGCTACTCGGGAGGCTGGCATGGGAGGATGGCT TGAGCCTGGGAGGTGGAGGTTGCGGTGAGCTGAGATGGCACCACTGTACTCCAGCCTGGA CAACAGAGCGAGACTGTCAAAAAAAAAAAAAAAGGTGAGTGCAGGCAGGCAGGCTGAGGG CATTGCCAAGGACTAAAACCAGTAGAGCAACCTCTGGCCATGTCACCCCTGCAGTACAGC TTTATGGCGGTCATCCACTTTGCGGGGCTCAAGGCCGTGGGCGAGTCGGTGCAGAAGCCT CTGGATTATTACAGAGTTAACCTGACCGGGACCATCCAGCTTCTGGAGGTGAGAGGCATG GGACAGGGCACAGACACTAGGAGGGTGTCCAGCTGGACCCCAGCCTGGCAGGCAGTGCCA AACACAGAGCCCAAGCTGTATCATCCTGGACTCATGTCTTTACCTCCCAGTCTCAGTTTC CCCATCTGTAAATGAGAGTGCTCATCACCTCAGCCCCATTCTCCTGTGGAGGAGTAACAG GGTGGGAGTAATGTGTGAGGCAGAGGTCACTGATGCCATCTCTCCACGGCCAGATCATGA AGGCCCACGGGGTGAAGAACCTGGTGTTCAGCAGCTCAGCCACTGTGTACGGGAACCCCC AGTACCTGCCCCTTGATGAGGCCCACCCCACGGGTGGTTGTACCAACCCTTACGGCAAGT CCAAGTTCTTCATCGAGGAAATGATCCGGGACCTGTGCCAGGCAGACAAGGTGAGGGCCC CCTTGACAGTGCCCTGGCTCCACTGATCGATGGACTCCTCAGGGCCCACCCTGAGCCCAG GGGTGGGATTCCGAACACCCCCACTAAGGAGGAAGCTAAGGCTCAGGCAGTTGCAGTGGA GGGCCCCATCCCCTGCTTGTTTCTAAAGATAATAAATAGACAACTGGCCGGGCGCAGTGG CTCATACCTGTAATCTCAGCACTTTGGGAGGCCCAGGTGGGCAGATCACCTGAGGTCAGG AGTTCAAGACCAGCCTGGACAACATGGTAAAACCCCCATCTCTACTAAAAATACAAACAT TAGCCGGCCATGGTGGTGTGTGCCTGTGGTCCCAGCTATTCGGGAGGCTGAGGCACAAGA ATTGCTTGAACCTGGAAGGCAGAGGTTGAAGTGAGCCAAATCAGGCCACTACACTCCAGC CTGGGCCATAGTGAGACTCCATCTCAAAAAAACAGAATAGGCATGAGGAGGGCTCTGGGT TCAGCTGGGACACGCTGCCTGTGCCTCTGGCCTCACCACCTGACCCACATCCCACAGACT TGGAACGCAGTGCTGCTGCGCTATTTCAACCCCACAGGTGCCCATGCCTCTGGCTGCATT GGTGAGGATCCCCAGGGCATACCCAACAACCTCATGCCTTATGTCTCCCAGGTAAGGCAA AAGGGAAGGGACAGAGGAGTGGCCCTGGGGTTAAAGCTGGTGCCTGGGATCTGGGACGAA CTGACCTGATCTCCACCTCCAGGTGGCGATCGGGCGACGGGAGGCCCTGAATGTCTTTGG CAATGACTATGACACAGAGGATGGCACAGGTGAGCCTAGGACCAGGGGGACCTAGGAGTG GGAGCCAGGAAGGAGAGTCAGGGGGAACAGACTCCCCATCCAACACACTCCCTTCTCTGC AGGTGTCCGGGATTACATCCATGTCGTGGATCTGGCCAAGGGCCACATTGCAGCCTTAAG GAAGCTGAAAGAACAGTGTGGCTGCCGGGTAGGAAGAGAAGGGAGAAGTGAGGGAGGGGA GGGACCAGATCCAGGCAGAGCGGCCCAGAGGCGTGGTCAGTCCAGCCCGCTCCATAAACC CTGTTCTCCGTGGGCCAGATCTACAACCTGGGCACGGGCACAGGCTATTCAGTGCTGCAG ATGGTCCAGGCTATGGAGAAGGCCTCTGGGAAGAAGGTAGGCCCCCCCGCCCCACCCACC TCACCCACCTCACCCCACCCAGCTCTCAGCAACAGAGCAGCTTTGGCCCTTCCCACTCAC CTCTCTGGAGGGTACCTGGCACTGCCCAGTCTCCTCAGCCTGCCTAGCACCCGGTGCCTG CGGGCCAGCCGCTGCTCTGCACTTCTGCTTCTTAAAGACCTGGCCAGCAGCTGGGCCAGG GCCGGCTCAGCTAAGCTCCAACTACCTCCTGTCTTGCAGATCCCGTACAAGGTGGTGGCA CGGCGGGAAGGTGATGTGGCAGCCTGTTACGCCAACCCCAGCCTGGCCCAAGAGGAGCTG GGGTGGACAGCAGCCTTAGGGCTGGACAGGATGTGTGAGTGCTGGCCTGACCCCTGCAGT TAGGGGCCAGGGAGGGGCTAAATCAGATCTGGGCATGCCCACCCAGGGCGGGCTGTGGGG TGGGGGAGGCTCTGCATTCCACCGTGGGCCCTGAGCACACACCTCGCCGTGTTGCAGGTG AGGATCTCTGGCGCTGGCAGAAGCAGAATCCTTCAGGCTTTGGCACGCAAGCCTGAGGAC CCTCCCCTACCAAGGACCAGGAAAAGCAGCAGCTGCCTGCTCTCCAGCCTCTGGCAGGAA CTCAGGGCCCTGGAGCTGCTGGGGCCAAGCCAAGGCCTCCCCTACCTCAAACCCCAGCTG GGCCCGCTTAGCCCACCAGGCATGAGGCCAAGGGCTCCACTGACCAGGAGGCCGAGGTCT CTAACTCTTATCTTCCACAGGGTCCAAGAGTTCATCAGGACCCCCAAGAGTGAGTGAGGG GGCAAGGCTCTGGCACAAAACCTCCTCCTCCCAGGCACTCATTTATATTGCTCTGAAAGA GCTTTCCAAAGTATTTAAAAATAAAAACAAGTTTTCTTACACTGGG OMIM ID 606953