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ITGA6

Synonyms
CD49f, ITGA6B, VLA-6
External resources
Summary
The gene encodes a member of the integrin alpha chain family of proteins. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain that function in cell surface adhesion and signaling. The encoded preproprotein is proteolytically processed to generate light and heavy chains that comprise the alpha 6 subunit. This subunit may associate with a beta 1 or beta 4 subunit to form an integrin that interacts with extracellular matrix proteins including members of the laminin family. The alpha 6 beta 4 integrin may promote tumorigenesis, while the alpha 6 beta 1 integrin may negatively regulate erbB2/HER2 signaling. Alternative splicing results in multiple transcript variants.

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
117
Likely pathogenic
0
VUS
6,577
Likely benign
2,488
Benign
103

Patient phenotypes

Proportions of phenotypes among 114 patients carring pathogenic or likely pathogenic variants on ITGA6 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
31.6%
Abnormality of the ear
19.3%
Abnormality of the musculoskeletal system
17.5%
Abnormality of the cardiovascular system
15.8%
Abnormality of head or neck
13.2%
Abnormality of blood and blood-forming tissues
9.6%
Abnormality of the eye
9.6%
Growth abnormality
7.9%
Abnormality of the digestive system
5.3%
Abnormality of the immune system
4.4%
Abnormality of the integument
4.4%
Abnormality of the genitourinary system
3.5%
Abnormality of limbs
1.8%
Abnormality of prenatal development or birth
1.8%
Abnormality of the respiratory system
1.8%
Abnormal cellular phenotype
0.9%
Abnormality of the endocrine system
0.9%
Constitutional symptom
0.9%
Neoplasm
0.9%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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