Gene entry
ATPAF2
ATP synthase mitochondrial F1 complex assembly factor 2
- Chromosome
- 17
- Cytoband
- 17p11.2
- Variants (rsID)
- 4
ATPAF2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 17 (region 17p11.2). Its official name is “ATP synthase mitochondrial F1 complex assembly factor 2”. The reference table lists 4 variants (rsID) for this gene.
Clinically classified variants
2 reference-table entries with clinical significance.
- rs34607655Benignsingle nucleotide variantMitochondrial complex V (ATP synthase) deficiency, nuclear type 1
- rs144484457Conflicting interpretationssingle nucleotide variantMitochondrial complex V (ATP synthase) deficiency, nuclear type 1
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.