ADD1 Chromosome 4

Adducin 1

2 variants 1 Drug Response 1 Health Risk

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What This Gene Does

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]

Gene Info

Gene Group

Adducin family

Locus Type

gene with protein product

Location

4p16.3

Ensembl

ENSG00000087274

Associated Conditions (5)

Hypertension

salt-sensitive essential

susceptibility to

hydrochlorothiazide response - Efficacy

Esophageal atresia/tracheoesophageal fistula

Key Variants

RS4961

drug response

Hypertension, salt-sensitive essential, susceptibility to

Drug Response

RS1731205978

Likely pathogenic

Esophageal atresia/tracheoesophageal fistula, Esophageal atresia/tracheoesophageal fistula

Health Risk

All Variants (2)

RSID	Category	Clinical Significance	Conditions
RS4961	Drug Response	drug response	Hypertension, salt-sensitive essential, susceptibility to
RS1731205978	Health Risk	Likely pathogenic	Esophageal atresia/tracheoesophageal fistula, Esophageal atresia/tracheoesophageal fistula