Meyahealth
HomeGeneticsGeneITGB2 gene
Back to Gene
ITGB2 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

ITGB2 gene

The ITGB2 gene provides instructions for creating the β2 subunit of integrin proteins, which are vital for white blood cell function and the immune response.

Normal Function

The ITGB2 gene provides instructions for making one part (the β2 subunit) of at least four different proteins known as β2 integrins. Integrins are a group of proteins that regulate the attachment of cells to one another (cell-cell adhesion) and to the surrounding network of proteins and other molecules (cell-matrix adhesion). Integrins also transmit signals that regulate cell growth and the activity of certain genes.

Integrins that contain the β2 subunit are found embedded in the membrane that surrounds white blood cells (leukocytes). β2 integrins help leukocytes gather at sites of infection or injury, where they are needed to contribute to the immune response. β2 integrins recognize signs of inflammation and attach (bind) to proteins called ligands on the lining of blood vessels. This binding leads to linkage (adhesion) of the leukocyte to the blood vessel wall. Signaling through the β2 integrins triggers the transport of the attached leukocyte across the blood vessel wall to the site of infection or injury.

Health Conditions Related to Genetic Changes

Leukocyte adhesion deficiency type 1

At least 90 mutations in the ITGB2 gene have been found to cause leukocyte adhesion deficiency type 1. This condition is characterized by severe, recurrent infections and delayed healing after injury.

  • Many of the mutations that cause this condition change single protein building blocks (amino acids) in the β2 subunit and lead to the production of a β2 subunit that cannot bind with other subunits to form integrins.
  • Rarely, defective β2 subunits are able to form integrins, but the integrins cannot bind ligands.
  • Leukocytes that lack these integrins cannot attach to the blood vessel wall or cross the vessel wall to contribute to the immune response.
  • As a result, there is a decreased response to injury and foreign invaders, such as bacteria and fungi, resulting in frequent infections, delayed wound healing, and other signs and symptoms of leukocyte adhesion deficiency type 1.

Other Names for This Gene

  • CD11b/ CD18
  • CD11c/CD18
  • CD11d/CD18
  • CD18
  • complement receptor C3 beta-subunit
  • complement receptor C3 subunit beta
  • CR3
  • integrin beta 2
  • integrin beta chain, beta 2
  • integrin beta-2
  • integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)
  • LFA-1 (αLβ2)
  • Mac-1 (αMβ2)
  • p150/95 (αXβ2)
  • αDβ2

Frequently Asked Questions

The ITGB2 gene produces the beta-2 subunit required for integrins to act as molecular anchors. When this gene is mutated, the resulting protein cannot properly bind to ligands on the blood vessel walls. Without this adhesion, white blood cells cannot stick to the vessel lining and squeeze through the wall to enter the tissue where infection or injury is occurring, leaving the body vulnerable to severe, recurrent infections.
Yes, the condition is inherited in an autosomal recessive pattern. This means that both parents must carry one copy of the mutated ITGB2 gene to pass it on, but because they each have one functional copy, they typically do not exhibit symptoms themselves. A child has a 25 percent chance of inheriting two mutated copies and developing the disorder.
Diagnosis is typically confirmed through genetic testing that identifies mutations in the ITGB2 gene. Prenatal testing is possible if a mutation is already known in the family. In newborns, flow cytometry can also be used to measure the levels of beta-2 integrins on the surface of white blood cells, which are usually absent or significantly reduced in affected individuals.
key early indicator is the failure of the umbilical cord to separate naturally within the first few weeks of life, which is a hallmark sign of the condition. Other early symptoms include persistent skin infections, poor wound healing, and the absence of pus formation at infection sites, which normally indicates that white blood cells are successfully gathering at the site of injury.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

Meyahealth

Ⓒ 2026. All rights reserved by MEYA

About UsTerms & PolicyFAQ