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Home TrueClone GALE Clone

GALE (NM_000403) Human cDNA Clone

Specifications Citations (1) Clones of Other Species Product Documents
SKU Description Price Availibility*  
SC119907 GALE (untagged)-Human UDP-galactose-4-epimerase (GALE), transcript variant 1 (10ug) NM_000403.3, 10ug $680 In Stock
TF81001 TurboFectin, High performance Transfection reagent (1ml/vial) $420 In Stock
TA502146 GALE mouse monoclonal antibody, clone 1C4, 100ul $379 In Stock
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OriGene Data
Vector:pCMV6-XL4 Insert Size: Restriction Site:
Sequence Data: Fully Sequenced ORF          5' Read Nucleotide Sequence         
OTI Disclaimer: Our molecular clone sequence data has been matched to the reference identifier above as a point of reference. Note that the complete sequence of our molecular clones may differ from the sequence published for this corresponding reference, e.g., by representing an alternative RNA splicing form or single nucleotide polymorphism (SNP).
Product Components: The cDNA clone is shipped in a 2-D bar-coded Matrix tube as dried plasmid DNA. The package also includes 100 pmols of both the corresponding 5' and 3' vector primers in separate vials. Every lot of primer is tested to provide clean sequencing of OriGene TrueClones.
Protein Families: Druggable Genome
Protein Pathways: Galactose metabolismAmino sugar and nucleotide sugar metabolismMetabolic pathways
Reference Data
RefSeq: NM_000403.3, NP_000394
RefSeq Size: 1647 RefSeq ORF: 1047
Synonyms : SDR1E1
LocusID: 2582 Cytogenetic: 1p36
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, Jul 2008].

Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2 and 3 encode the same protein.

* Delivery time is an estimate in business days. Occasional delays may occur due to unforeseen complexities in the preparation of your construct. International customers may expect an additional 1-2 weeks in shipping

 

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