Alternative titles; symbols
HGNC Approved Gene Symbol: ERH
Cytogenetic location: 14q24.1 Genomic coordinates (GRCh38): 14:69,380,128-69,398,299 (from NCBI)
ERH is the human homolog of the Drosophila gene Droer, which encodes a trans-acting regulator that acts as an enhancer of the rudimentary gene. The rudimentary gene encodes a protein with enzymatic functions in the pyrimidine metabolic pathway, and mutant flies, which are characterized by truncated wings, can be rescued when embryos are grown in pyrimidine-enriched medium (Isomura et al., 1996).
Isomura et al. (1996) identified a cDNA from a human fetal brain library related to the conserved Drosophila gene Droer. The human homolog of Droer, designated ERH, is a predicted 104-amino acid 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, Isomura et al. (1996) mapped the ERH gene to chromosome 7q34 by fluorescence in situ hybridization. However, Gross (2011) mapped the ERH gene to chromosome 14q24.1 based on an alignment of the ERH sequence (GenBank BC014301) with the genomic sequence (GRCh37).
Gross, M. B. Personal Communication. Baltimore, Md. 4/20/2011.
Isomura, M., Okui, K., Fujiwara, T., Shin, S., Nakamura, Y. Cloning and mapping of a novel human cDNA homologous to DROER, the enhancer of the Drosophila melanogaster rudimentary gene. Genomics 32: 125-127, 1996. [PubMed: 8786099] [Full Text: https://doi.org/10.1006/geno.1996.0086]