ARMCX3

Chr X

armadillo repeat containing X-linked 3

Also known as: ALEX3, GASP6, dJ545K15.2

ARMCX3 encodes a protein that regulates mitochondrial transport and aggregation in axons by linking mitochondria to the TRAK2-kinesin motor complex, and enhances SOX10-mediated transactivation of neuronal acetylcholine receptor subunit genes. Mutations cause X-linked intellectual disability with variable neurological features. This X-linked gene follows typical X-linked inheritance patterns with affected males and carrier females who may have milder manifestations.

Summary from RefSeq, UniProt
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0
Active trials
2
Pubs (1 yr)
0
P/LP submissions
P/LP missense
0.84
LOEUF
Mechanism
Clinical SummaryARMCX3
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.18) 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
0.84LOEUF
pLI 0.459
Z-score 1.81
OE 0.18 (0.060.84)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
1.74Z-score
OE missense 0.59 (0.490.70)
82 obs / 140.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.18 (0.060.84)
00.351.4
Missense OE0.59 (0.490.70)
00.61.4
Synonymous OE0.93
01.21.6
LoF obs/exp: 1 / 5.6Missense obs/exp: 82 / 140.0Syn Z: 0.40

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

ARMCX3 · 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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