ATPAF1
Description
The ATPAF1 (ATP synthase mitochondrial F1 complex assembly factor 1) is a protein-coding gene located on chromosome 1.
The ATPAF1 gene encodes a protein that is involved in the assembly of the F1 component of the mitochondrial ATP synthase. This protein binds specifically to the F1 beta subunit, preventing the formation of nonproductive homooligomers during enzyme assembly. This gene has been shown to have multiple transcript variants, but the biological significance of some of these variants is still unclear.
ATPAF1 may play a crucial role in the assembly of the mitochondrial F1-F0 complex, which is essential for cellular energy production.
ATPAF1 is also known as ATP11, ATP11p.
Associated Diseases
- Alzheimer disease
- Parkinson disease
- lysosomal storage disease
- multiple sclerosis
- nonpapillary renal cell carcinoma
- cancer
- pancreatic ductal adenocarcinoma
