rs1227802220
This variant is located in the ATPAF2 gene.
▶ClinVar annotation
Likely Benign★☆☆☆
1 submitter1 publicationAbout ATPAF2
This gene encodes an assembly factor for the F(1) component of the mitochondrial ATP synthase. This protein binds specifically to the F1 alpha subunit and is thought to prevent this subunit from forming nonproductive homooligomers during enzyme assembly. This gene is located within the Smith-Magenis syndrome region on chromosome 17. An alternatively spliced transcript variant has been described, but its biological validity has not been determined. [provided by RefSeq, Jul 2008]
View all ATPAF2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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