LEPREL1
The Leprel1 Gene: A Vital Regulator of Protein Synthesis
Description
The leprel1 gene, also known as KIAA1324, encodes a protein that plays a crucial role in protein synthesis, the process by which cells create new proteins from amino acids. The Leprel1 protein is part of the ribosome, a complex molecular machine responsible for translating messenger RNA (mRNA) into proteins. It specifically interacts with the 60S subunit of the ribosome and is essential for the assembly and function of the ribosomal complex.
Associated Diseases
Mutations in the leprel1 gene have been linked to several developmental disorders, including:
- Diamond-Blackfan Anemia (DBA): A rare genetic disorder characterized by bone marrow failure and a reduced number of red blood cells.
- Congenital Amegakaryocytic Thrombocytopenia (CAMT): A condition characterized by the absence of platelets in the blood, leading to severe bleeding.
- Short Rib-Polydactyly Syndrome: A condition involving short ribs, extra fingers and toes, and other skeletal abnormalities.
In some cases, mutations in the leprel1 gene can lead to a reduced production of Leprel1 protein, which affects ribosome assembly and protein synthesis. This can disrupt various cellular processes and contribute to the development of these disorders.
Did you Know ?
Approximately 1 in every 1,000,000 individuals worldwide is affected by DBA, with mutations in the leprel1 gene accounting for about 10% of cases. This highlights the rare occurrence of leprel1-related disorders.
