DEFB4A
Description
The DEFB4A (defensin beta 4A) is a protein-coding gene located on chromosome 8.
DEFB4A exhibits antimicrobial activity against both Gram-negative and Gram-positive bacteria, with a stronger effect against Gram-negative bacteria. Its antimicrobial activity against Pseudomonas aeruginosa is salt-sensitive, decreasing at salt concentrations above 25 mM. DEFB4A also demonstrates antimicrobial activity against the yeast Candida albicans, permeabilizing its cell membranes by targeting phosphatidylinositol 4,5-bisphosphate (PIP2), leading to cell fragmentation and death. DEFB4A acts as a ligand for the C-C chemokine receptor CCR6, binding to it and inducing chemotactic activity in CCR6-expressing cells, including immature dendritic cells and memory T cells.
DEFB4A is also known as BD-2, DEFB-2, DEFB102, DEFB2, DEFB4, HBD-2, SAP1.
Associated Diseases
- immunodeficiency 28
- varicella, severe recurrent
- recurrent Neisseria infections due to factor D deficiency
- candidiasis, familial, 4
- X-linked severe congenital neutropenia
- type II complement component 8 deficiency
- autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
