Rhabdoid Tumor Deletion Region Gene 1 (RTDR1)

RTDR1 encodes a protein with no known function but with slight similarity to a yeast vacuolar protein. The gene is located in a region deleted in pediatric rhabdoid tumors of the brain, kidney and soft tissues, but mutations in this gene have not been associated with the disease.

Zhou et al. (2000) isolated 2 genes, designated RTDR1 and RAB36, in the region of 22q11.2 that is often deleted in pediatric rhabdoid tumors. The RTDR1 gene contains 7 exons, spans approximately 81.5 kb of genomic DNA, and encodes a deduced 348-amino acid protein. Multiple fetal tissue Northern blot analysis revealed a major 2.3-kb transcript in brain, lung, liver, and kidney. RT-PCR demonstrated expression in cerebellum, spinal cord, spleen, skeletal muscle, and 5 of 9 rhabdoid tumor samples.