UTP--glucose-1-phosphate uridylyltransferase
Definition:
References:
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[1]. H L Peng, et al. Cloning of a human liver UDP-glucose pyrophosphorylase cDNA by complementation of the bacterial galU mutation. FEBS Lett. 1993 Aug 23;329(1-2):153-8. [Content Brief]
[2]. R G Duggleby, et al. Sequence differences between human muscle and liver cDNAs for UDPglucose pyrophosphorylase and kinetic properties of the recombinant enzymes expressed in Escherichia coli. Eur J Biochem. 1996 Jan 15;235(1-2):173-9. [Content Brief]
[3]. Elena Perenthaler, et al. Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases. Acta Neuropathol. 2020 Mar;139(3):415-442. [Content Brief]