TMSB4X

Chr X

thymosin beta 4 X-linked

Also known as: FX, PTMB4, TB4X, TMSB4

This protein binds and sequesters actin monomers to inhibit actin polymerization, playing an important role in cytoskeletal organization. Mutations cause X-linked intellectual disability with cardiac arrhythmias and skeletal abnormalities. The gene escapes X-inactivation and shows X-linked inheritance affecting multiple organ systems including the nervous system, heart, and skeletal development.

OMIMResearchSummary from RefSeq, UniProt
LOEUF 1.67
Clinical SummaryTMSB4X
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.00) despite low pLI — interpret in context.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
1.67LOEUF
pLI 0.412
Z-score 1.00
OE 0.00 (0.001.67)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.98Z-score
OE missense 0.27 (0.130.63)
4 obs / 14.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.00 (0.001.67)
00.351.4
Missense OE0.27 (0.130.63)
00.61.4
Synonymous OE1.68
01.21.6
LoF obs/exp: 0 / 1.2Missense obs/exp: 4 / 14.6Syn Z: -1.42

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

TMSB4X · 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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