NUCLEOTIDES ENCODING HUMAN B1, 4-GALACTOSYLTRANSFERASE AND USES THEREOF

摘要

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.