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DDS1

Chr 7AD

actin beta

Also known as: BKRNS, BNS, BRWS1, CSMH, DDS1, PS1TP5BP1, THC8

DDS1 encodes a nonmuscle cytoskeletal actin protein that is a major constituent of the contractile apparatus and is involved in cell motility, structure, and intercellular signaling. Mutations cause dystonia-deafness syndrome 1, characterized by dystonia and sensorineural hearing loss. The condition follows autosomal dominant inheritance.

OMIMResearchSummary from RefSeq, OMIM
AD1 OMIM phenotype
Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/DDS1?content-type=application/json&expand=1

gnomad: Error: Gene not found

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

DDS1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

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