RPL38
Description
The RPL38 (ribosomal protein L38) is a protein-coding gene located on chromosome 17.
The human RPL38 gene is located on chromosome 17 and encodes a ribosomal protein that is part of the 60S subunit of the ribosome. This gene has five exons spanning 6223 base pairs and codes for a 70 amino acid protein. There are multiple pseudogenes of this gene throughout the genome, including one in the promoter region of the angiotensin II receptor type 1 gene.
This protein is a component of the large ribosomal subunit, which is responsible for protein synthesis in the cell. This function is supported by evidence from scientific publications.
RPL38 is also known as L38, eL38.
Associated Diseases
- Duchenne muscular dystrophy
- cystic fibrosis
- Becker muscular dystrophy
- qualitative or quantitative defects of dystrophin
- aniridia
- hemophilia B
- cystinosis
- Alport syndrome
- hemophilia A
- autosomal recessive spondylocostal dysostosis
- spondylometaphyseal dysplasia, A4 type
- autosomal dominant spondylocostal dysostosis
- spondylometaphyseal dysplasia, 'corner fracture' type
- Acropectorovertebral dysplasia
- X-linked dominant chondrodysplasia, Chassaing-Lacombe type
