RPL7A
Description
The RPL7A (ribosomal protein L7a) is a protein-coding gene located on chromosome 9.
The RPL7A gene encodes for the 60S ribosomal protein L7a, a component of the large ribosomal subunit (60S) that is essential for protein synthesis. This protein belongs to the L7AE family of ribosomal proteins and can interact with nuclear hormone receptors, inhibiting their function by preventing DNA binding. The gene is part of the surfeit gene cluster and is co-transcribed with several small nucleolar RNA genes. It can also rearrange with the trk proto-oncogene, forming the chimeric oncogene trk-2h.
RPL7A is a component of the large ribosomal subunit, which is a complex responsible for protein synthesis in the cell.
RPL7A is also known as L7A, SURF3, TRUP, eL8.
Associated Diseases
- Duchenne muscular dystrophy
- cystic fibrosis
- Becker muscular dystrophy
- endometrial cancer
- qualitative or quantitative defects of dystrophin
- aniridia
- hemophilia B
- hemophilia A
- Alport syndrome
- cystinosis
