ITGAX

Chr 16

integrin subunit alpha X

Also known as: CD11C, SLEB6

This gene encodes the integrin alpha X chain protein. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This protein combines with the beta 2 chain (ITGB2) to form a leukocyte-specific integrin referred to as inactivated-C3b (iC3b) receptor 4 (CR4). The alpha X beta 2 complex seems to overlap the properties of the alpha M beta 2 integrin in the adherence of neutrophils and monocytes to stimulated endothelium cells, and in the phagocytosis of complement coated particles. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]

OMIMResearchGenerating clinical summary…
0
Active trials
77
Pubs (1 yr)
P/LP submissions
P/LP missense
0.72
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.72LOEUF
pLI 0.000
Z-score 3.39
OE 0.54 (0.410.72)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.55Z-score
OE missense 0.94 (0.881.00)
658 obs / 699.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.54 (0.410.72)
00.351.4
Missense OE?0.94 (0.881.00)
00.61.4
Synonymous OE?1.05
01.21.6
LoF obs/exp: 35 / 64.4Missense obs/exp: 658 / 699.2Syn Z: -0.69

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

ITGAX · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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