TSR2 (gene)

TSR2 is a gene that in humans is encoded by the TSR2, 20S rRNA accumulation, homolog (S. cerevisiae) gene. The gene is also known as TSR2 ribosome maturation factor and is involved in the process of ribosome biogenesis.

Function

The TSR2 gene is a part of the ribosome biogenesis pathway, which is a complex and highly coordinated process involving the production and assembly of four ribosomal RNAs (rRNAs) and about 80 ribosomal proteins. This gene is a member of the nucleolar protein family and is thought to function in the early steps of ribosome biogenesis.

Clinical significance

Mutations in the TSR2 gene have been associated with Diamond-Blackfan anemia, a rare genetic disorder that affects the bone marrow and results in decreased production of red blood cells.

Structure

The TSR2 gene is located on the short (p) arm of chromosome 12 at position 12. The exact sequence of the gene varies between individuals, but it generally contains 10 exons and spans approximately 23,000 base pairs.

Expression

TSR2 is expressed in a variety of tissues, with the highest levels found in the bone marrow, liver, and kidney. Its expression is regulated by various factors, including cellular stress and the availability of nutrients.

See also

• Diamond-Blackfan anemia
• Ribosome biogenesis
• Chromosome 12