DEFB103A
Description
The DEFB103A (defensin beta 103A) is a protein-coding gene located on chromosome 8.
Beta-defensin 103 is a protein encoded by the DEFB103A gene in humans. Defensins are a family of antimicrobial and cytotoxic peptides produced by neutrophils. This gene encodes defensin, beta 103B, which possesses broad-spectrum antimicrobial activity. It plays a crucial role in innate epithelial defense. In dogs, the same genetic locus produces β-Defensin 103, which also contributes to pigmentation by acting as an agonist of the melanocortin 1 receptor.
DEFB103A is also known as BD-3, DEFB-3, DEFB103, DEFB3, HBD3, HBP-3, HBP3.
Associated Diseases
- ghosal hematodiaphyseal dysplasia
- melorheostosis
- 12q14 microdeletion syndrome
- bleeding disorder, platelet-type, 24
- platelet-type bleeding disorder 15
- osteomesopyknosis
- pyknoachondrogenesis
