ITGAL

Chr 16AR

integrin subunit alpha L

Also known as: CD11A, EV6, HNA-5, LFA-1, LFA1A

NCBI Gene: 3683 ENSG00000005844 UniProt: P20701 OMIM: 153370

The integrin alpha L chain combines with integrin beta 2 to form LFA-1, which mediates leukocyte adhesion, migration, and immune cell interactions through binding to intercellular adhesion molecules. Mutations cause leukocyte adhesion deficiency type 1, an autosomal recessive primary immunodeficiency characterized by recurrent severe bacterial infections, delayed wound healing, and absent pus formation due to impaired neutrophil migration. The gene is highly constrained against loss-of-function variants, reflecting its essential role in immune function.

OMIM ResearchSummary from RefSeq, UniProt

ITGAL encodes the integrin alpha L chain. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This I-domain containing alpha integrin combines with the beta 2 chain (ITGB2) to form the integrin lymphocyte function-associated antigen-1 (LFA-1), which is expressed on all leukocytes. LFA-1 plays a central role in leukocyte intercellular adhesion through interactions with its ligands, ICAMs 1-3 (intercellular adhesion molecules 1 through 3), and also functions in lymphocyte costimulatory signaling. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

{Epidermodysplasia verruciformis, susceptibility to, 6}MIM #621588

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.41

LOEUF

Multiple*

Mechanism· predicted