Nucleotides encoding human b1, 4-galactosyltransferase and...

Details Nucleotides encoding human b1, 4-galactosyltransferase and... Nucleotides encoding human b1, 4-galactosyltransferase and...

C - Chemistry, Metallurgy

12

N

167/139, 195/39,

C12N 15/00 (2006.01) C07K 16/40 (2006.01) C12N 5/00 (2006.01) C12N 9/00 (2006.01) C12N 9/10 (2006.01) C12P 19/18 (2006.01) C12Q 1/00 (2006.01) C12Q 1/48 (2006.01)

Patent

CA 2003797

ABSTRACT OF THE INVENTION The present invention provides a isolated nucleic acid sequence which encodes purified membrane-bound human .beta.-1,4- galactosyltransferase, or a functional equivalent thereof. This invention also provides a isolated nucleic acid sequence which encodes purified soluble human .beta.-1,4- galactosyltransferase or a functional equivalent thereof. The invention further provides vectors comprising these nucleic acid sequences and the expression of recombinant proteins by use of a host vector system. The invention still further provides antibodies reactive with the proteins and probes reactive with the nucleic acid sequences. Finally, the invention provides a method of diagnosing congenital dyserthropoietic anemia type II in a subject.

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