Proline And Serine Rich Protein 1 (PROSER1)

Chromosome 13 spans about 114 million base pairs and represents between 3.5 and 4 % of the total DNA in cells.Retinoblastoma is caused by abnormalities of a gene called RB1, which is located on a region of the long (q) arm of chromosome 13 designated 13q14. Although most retinoblastomas are caused by mutations within the RB1 gene, a small percentage of retinoblastomas result from a deletion of the 13q14 region.In addition to retinoblastoma, deletions of the 13q14 region may cause intellectual disability, slow growth, and characteristic facial features such as prominent eyebrows, a broad nasal bridge, a short nose, and ear abnormalities. A loss of several genes is likely responsible for these developmental problems, although researchers have not determined which other genes in the deleted region are involved.