OXA1L
Description
The OXA1L (OXA1L mitochondrial inner membrane protein) is a protein-coding gene located on chromosome 14.
OXA1L, a mitochondrial inner membrane protein, is encoded by the OXA1L gene located on human chromosome 14q11.2. The C-terminus of OXA1L interacts with mitochondrial ribosomes and aids in the insertion of both mitochondrial and nuclear-produced proteins into the inner membrane of the mitochondria.
OXA1L is crucial for inserting integral membrane proteins into the mitochondrial inner membrane. It plays a vital role in the proper functioning and assembly of cytochrome oxidase. Additionally, it is essential for the correct formation of ATP synthase and complex I within the mitochondria.
OXA1L is also known as OXA1, OXA1L1.
Associated Diseases
- mitochondrial disease
- lysinuric protein intolerance
- prostate cancer
- myoepithelial tumor
- Duane retraction syndrome
- cancer
- hereditary spastic paraplegia
