RDX

Chr 11AR

radixin

Also known as: DFNB24

Radixin is a cytoskeletal protein that binds the barbed end of actin filaments to the plasma membrane, linking the actin cytoskeleton to the cell membrane. Mutations cause autosomal recessive deafness (DFNB24). The gene is highly constrained against loss-of-function variants, suggesting that complete loss of radixin function is likely pathogenic.

OMIMResearchSummary from RefSeq, OMIM, UniProt
ARLOEUF 0.351 OMIM phenotype
Clinical SummaryRDX
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Gene-Disease Validity (ClinGen)
nonsyndromic genetic hearing loss · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.85) — some intolerance to loss-of-function variants.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

LoF intolerant — likely haploinsufficient
LoF Constraint
0.35LOEUF
pLI 0.852
Z-score 4.82
OE 0.19 (0.110.35)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint
0.91Z-score
OE missense 0.86 (0.780.95)
275 obs / 320.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.19 (0.110.35)
00.351.4
Missense OE0.86 (0.780.95)
00.61.4
Synonymous OE1.05
01.21.6
LoF obs/exp: 8 / 41.5Missense obs/exp: 275 / 320.8Syn Z: -0.39

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

RDX · 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

No active trials found for this gene.

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Clinical Literature
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