CARD10
Function
Scaffold protein that plays an important role in mediating the activation of NF-kappa-B via BCL10 or EGFR.
Involvement in disease
Immunodeficiency 89 and autoimmunity
IMD89
An autosomal recessive disorder characterized by adult onset of recurrent infections, allergies, microcytic anemia, and Crohn disease.
None
The disease may be caused by variants affecting the gene represented in this entry.
Tissue Specificity
Detected in adult heart, kidney and liver; lower levels in intestine, placenta, muscle and lung. Also found in fetal lung, liver and kidney.
Cellular localization
- Cytoplasm
Alternative names
CARMA3, CARD10, Caspase recruitment domain-containing protein 10, CARD-containing MAGUK protein 3, Carma 3