Human galactokinase gene
AssigneesSmithKline Beecham Corporation, The Trustees of the University of Pennsylvania
InventorsDerk Jon Bergsma, Dwight Edward Stambolian, Steven M. Ruben, Craig A. Rosen
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Abstract
This invention relates to human galactokinase and the identification of galactokinase mutations, a missense and nonsense, as well as isolated nucleic acids encoding same, recombinant host cell transformed with DNA encoding such proteins and to uses of the expressed proteins and nucleic acid sequences in therapeutic and diagnostic applications.
Claims15
An isolated nucleic acid molecule encoding human galactokinase, said nucleic acid molecule selected from the group consisting of:
- (a) a nucleic acid molecule comprising the sequence as set forth in SEQ ID NO:4 from nucleotide 29 to nucleotide 1204;
- (b) a nucleic acid molecule substantially similar to the nucleic acid molecule of (a), wherein said substantially similar nucleic acid molecule encodes active human galactokinase;
- and
- (c) a nucleic acid molecule differing from the nucleic acid molecule of (a) or (b) in codon sequence due to the degeneracy of the genetic code.
An isolated nucleic acid molecule comprising a DNA sequence from nucleotides 29 to 1204 of SEQ ID NO:4.
An isolated nucleic acid molecule comprising a DNA sequence from nucleotides 29 to 1204 of SEQ ID NO:5 or nucleotides 29 to 265 of SEQ ID NO:6.
Dependencies are inferred from the claim text.