Adducin 3

Alternative Names

  • ADD3
  • Adducin, Gamma
  • Adducin-Like
  • ADDL
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OMIM Number

601568

NCBI Gene ID

120

Uniprot ID

Q9UEY8

Length

139,201 bases

No. of Exons

23

No. of isoforms

2

Protein Name

Gamma-adducin

Molecular Mass

79155 Da

Amino Acid Count

706

Genomic Location

chr10:109,996,365-110,135,565

Gene Map Locus
10q25.1-q25.2

Description

Adducins are heteromeric proteins composed of different subunits referred to as adducin alpha, beta and gamma. The three subunits are encoded by distinct genes and belong to a family of membrane skeletal proteins involved in the assembly of spectrin-actin network in erythrocytes and at sites of cell-cell contact in epithelial tissues. While adducins alpha and gamma are ubiquitously expressed, the expression of adducin beta is restricted to brain and hematopoietic tissues. Adducin, originally purified from human erythrocytes, was found to be a heterodimer of adducins alpha and beta. Polymorphisms resulting in amino acid substitutions in these two subunits have been associated with the regulation of blood pressure in an animal model of hypertension. Heterodimers consisting of alpha and gamma subunits have also been described. Structurally, each subunit is comprised of two distinct domains. The amino-terminal region is protease resistant and globular in shape, while the carboxy-terminal region is protease sensitive. The latter contains multiple phosphorylation sites for protein kinase C, the binding site for calmodulin, and is required for association with spectrin and actin. Alternatively spliced adducin gamma transcripts encoding different isoforms have been described. The functions of the different isoforms are not known. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_016824.5:c.1100G>AUnited Arab EmiratesNC_000010.11:g.110122249G>ALikely Pathogenic, PathogenicPathogenicCerebral Palsy, Spastic Quadriplegic 3NG_051033.1:g.130900G>A; NM_016824.5:c.1100G>A; NP_058432.1:p.Gly367Asp564185858242273
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