CARD14 : caspase recruitment domain family member 14

Description

The CARD14 (caspase recruitment domain family member 14) is a protein-coding gene located on chromosome 17.

The CARD14 gene provides instructions for making a protein that activates a group of interacting proteins known as nuclear factor-kappa-B (NF-κB). NF-κB regulates the activity of genes controlling the body's immune responses and inflammatory reactions. Inflammation is a normal immune response to injury and foreign invaders. NF-κB also protects cells from signals that would otherwise cause them to self-destruct (apoptosis). The CARD14 protein is found in many tissues, particularly abundant in the skin. NF-κB signaling plays important roles in regulating inflammatory reactions in the skin and promoting the survival of skin cells.

CARD14 acts as a scaffolding protein, activating the inflammatory transcription factor NF-kappa-B and the p38/JNK MAP kinase signaling pathways. It forms a complex with BCL10 and MALT1, triggering MALT1's proteolytic activity and inflammatory gene expression. MALT1 is crucial for CARD14-mediated activation of NF-kappa-B and p38/JNK MAP kinases. CARD14 may also play a role in signaling mediated by TRAF2, TRAF3, and TRAF6, contributing to cell protection against apoptosis.

CARD14 is also known as BIMP2, CARMA2, PRP, PSORS2, PSS1.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing