ATPAF1
ATP synthase mitochondrial F1 complex assembly factor 1
Summary
This gene encodes an assembly factor for the F(1) component of the mitochondrial ATP synthase. This protein binds specifically to the F1 beta subunit and is thought to prevent this subunit from forming nonproductive homooligomers during enzyme assembly. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Aug 2011]
Known Variants11 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs139683803 | 1:47,101,556 | G/C | — | likely benign |
| rs2524034896 | 1:47,101,588 | C/T | — | uncertain significance |
| rs35050319 | 1:47,103,886 | C/G | — | — |
| rs2524059283 | 1:47,110,903 | T/A | — | uncertain significance |
| rs2476158 | 1:47,124,788 | A/G | intron variant | — |
| rs909032734 | 1:47,133,829 | G/A | — | uncertain significance |
| rs1676528032 | 1:47,133,902 | G/T | — | uncertain significance |
| rs1453792927 | 1:47,133,903 | C/T | — | uncertain significance |
| rs1244209138 | 1:47,133,931 | G/A | — | uncertain significance |
| rs2524131648 | 1:47,134,002 | C/G | — | uncertain significance |
| rs2524132013 | 1:47,134,048 | C/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.