Human erythroid porphobilinogen deaminase exists in 2 splice variants

Human porphobilinogen deaminase (PBGD) is, reportedly, encoded by 2 distinc t messenger RNAs (mRNAs) transcribing from a single gene. The ubiquitous fo rm of the PBGD gene product is often used as an endogenous reference in gen e expression studies because it is pseudo gene free and has minimal transcr iptional variability among tissues. A distinct erythroid-specific gene prod uct has also been described because of the alternate splicing of the gene. Here is reported the existence of an additional erythroid-specific isoform of PBGD mRNA in primary cells. (C) 2001 by The American Society of Hematolo gy.