ADD1

Chr 4

adducin 1

Also known as: ADDA

NCBI Gene: 118 ENSG00000087274 UniProt: P35611

The alpha-adducin protein promotes assembly of the spectrin-actin cytoskeletal network and binds to calmodulin, serving as a key membrane-cytoskeleton-associated protein. Mutations cause salt-sensitive essential hypertension with multifactorial inheritance. This gene is highly constrained against loss-of-function variants in the general population.

ResearchSummary from RefSeq, OMIM, UniProt

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]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.30

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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