RPL12
Description
The RPL12 (ribosomal protein L12) is a protein-coding gene located on chromosome 9.
The RPL12 gene encodes a ribosomal protein that is a component of the 60S subunit, which is part of the ribosome, the organelle responsible for protein synthesis. The protein is located in the cytoplasm and belongs to the L11P family of ribosomal proteins. It directly binds to the 26S rRNA. The RPL12 gene is co-transcribed with the U65 snoRNA, located within its fourth intron. There are multiple processed pseudogenes of this gene dispersed throughout the genome.
RPL12 is also known as L12, uL11.
Associated Diseases
- Duchenne muscular dystrophy
- cystic fibrosis
- Becker muscular dystrophy
- qualitative or quantitative defects of dystrophin
- thyroid gland adenocarcinoma
- aniridia
- hemophilia B
- cystinosis
- hemophilia A
- Alport syndrome
- Senior-Boichis syndrome
