Ferric Chelate Reductase 1 Like Protein (FRRS1L)

Using positional cloning and exon trapping with cosmid clones in brain cDNA libraries to search for candidate genes for familial dysautonomia (DYS), Chadwick et al. (2000) isolated a C9ORF4 cDNA, which they named CG6. They used PCR to obtain the complete sequence of C9ORF4, which encodes a deduced 344-amino acid transmembrane protein predicted to contain 5 phosphorylation sites. Northern blot analysis revealed high expression of an 8.5-kb transcript in all regions of adult and fetal brain, with weaker expression in medulla and spinal cord and in adult ovary. By somatic cell hybridization analysis, Chadwick et al. (2000) mapped the C9ORF4 gene to chromosome 9. By analysis of cosmid clones and BACs, they localized the gene to the DYS region, 9q31-q33. Chadwick et al. (2000) examined DYS patients and controls and found no mutations in the C9ORF4 gene.