GLI Pathogenesis Related Protein 2 (GLIPR2)

Using a positional cloning strategy, Eisenberg et al. (2002) identified a novel transcript in the critical region for IBM2 on chromosome 9p13-p12. They cloned the full-length cDNA, designated C9ORF19, from a human placenta cDNA library. C9ORF19 encodes a deduced 154-amino acid protein with a calculated molecular mass of 17.2 kD. Northern blot analysis detected a 1.9-kb transcript in most adult tissues tested, with highest expression in lung and peripheral leukocytes and minor expression in liver and kidney. Eisenberg et al. (2002) determined that the C9ORF19 gene contains 5 exons and spans more than 27 kb.By sequence analysis, Eisenberg et al. (2002) mapped the C9ORF19 gene to chromosome 9p13-p12.By mutation analysis in patients with IBM2, Eisenberg et al. (2002) excluded C9ORF19 as the disease-causing gene.