LAT Chromosome 16
Linker for activation of T cells
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What This Gene Does
The protein encoded by this gene is phosphorylated by ZAP-70/Syk protein tyrosine kinases following activation of the T-cell antigen receptor (TCR) signal transduction pathway. This transmembrane protein localizes to lipid rafts and acts as a docking site for SH2 domain-containing proteins. Upon phosphorylation, this protein recruits multiple adaptor proteins and downstream signaling molecules into multimolecular signaling complexes located near the site of TCR engagement. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Associated Conditions (1)
Severe combined immunodeficiency due to LAT deficiency
Key Variants
RS373283173
Conflicting classifications of pathogenicity
Health Risk
RS1363494222
Likely pathogenic
Health Risk
RS1555524788
Pathogenic
Severe combined immunodeficiency due to LAT deficiency, Severe combined immunodeficiency due to LAT deficiency
Health Risk
RS1965773773
Pathogenic
Health Risk
RS2506676388
Pathogenic
Health Risk
RS2506681723
Pathogenic
Health Risk
RS749637413
Pathogenic
Severe combined immunodeficiency due to LAT deficiency, Severe combined immunodeficiency due to LAT deficiency
Health Risk
RS781410769
Pathogenic
Severe combined immunodeficiency due to LAT deficiency, Severe combined immunodeficiency due to LAT deficiency
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS373283173 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1363494222 | Health Risk | Likely pathogenic | — |
| RS1555524788 | Health Risk | Pathogenic | Severe combined immunodeficiency due to LAT deficiency, Severe combined immunodeficiency due to LAT deficiency |
| RS1965773773 | Health Risk | Pathogenic | — |
| RS2506676388 | Health Risk | Pathogenic | — |
| RS2506681723 | Health Risk | Pathogenic | — |
| RS749637413 | Health Risk | Pathogenic | Severe combined immunodeficiency due to LAT deficiency, Severe combined immunodeficiency due to LAT deficiency |
| RS781410769 | Health Risk | Pathogenic | Severe combined immunodeficiency due to LAT deficiency, Severe combined immunodeficiency due to LAT deficiency |