rs112813723
This variant is located in the ADD1 gene.
▶ClinVar annotation
Benign★★★☆
2 submitters2 publicationsAbout ADD1
Adducins are a family of cytoskeletal proteins encoded by three genes (alpha, beta, and gamma). Adducin acts as a heterodimer of the related alpha, beta, or gamma subunits. The protein encoded by this gene represents the alpha subunit. Alpha- and beta-adducin include a protease-resistant N-terminal region and a protease-sensitive, hydrophilic C-terminal region. Adducin binds with high affinity to Ca(2+)/calmodulin and is a substrate for protein kinases A and C. [provided by RefSeq, Aug 2017]
View all ADD1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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