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ITGAX

Synonyms
CD11C, SLEB6
External resources
Summary
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.

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
15
Likely pathogenic
0
VUS
7,008
Likely benign
778
Benign
0

Patient phenotypes

Proportions of phenotypes among 12 patients carring pathogenic or likely pathogenic variants on ITGAX gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
58.3%
Abnormality of the cardiovascular system
33.3%
Abnormality of the eye
33.3%
Abnormality of head or neck
16.7%
Abnormality of the digestive system
16.7%
Abnormality of the ear
16.7%
Abnormality of the musculoskeletal system
16.7%
Abnormal cellular phenotype
8.3%
Abnormality of blood and blood-forming tissues
8.3%
Abnormality of limbs
8.3%
Abnormality of the genitourinary system
8.3%
Abnormality of the immune system
8.3%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the integument
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Growth abnormality
0%
Neoplasm
0%

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