Small Integral Membrane Protein 2 (SMIM2)

Chromosome 13 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 13 spans about 114 million base pairs (the building material of DNA) 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.