Enhancer Of Rudimentary Homolog (ERH)

Isomura et al. (1996) identified a cDNA from a human fetal brain library related to the conserved Drosophila gene DROER, a trans-acting regulator that acts as an enhancer of the rudimentary gene. The rudimentary gene itself is an important enzyme in the pyrimidine pathway and mutant flies (which are characterized by truncated wings) can be rescued when embryos are grown in pyrimidine-enriched medium. The human homolog of DROER, designated ERH, is a 104-amino acid predicted protein with 79.8% overall identity to the D. melanogaster protein. The authors stated that a 0.9-kb ERH transcript was expressed in all normal tissues examined. Using a genomic cosmid clone containing ERH the authors mapped the gene to 7q34 by fluorescence in situ hybridization.