Disease-gene associations mined from literature

Literature associating DEFB114 and autosomal recessive congenital ichthyosis 1

DEFB114 [ENSP00000312702]

Defensin, beta 114; Has a salt-sensitive antimicrobial activity against Gram-negative bacteria, including E.coli, Gram-positive, including S.aureus, and fungi, including C.albicans. Binds to and neutralizes bacterial lipopolysaccharides (LPS), abolishing TNF production by macrophages challenged with LPS. Rescues the LPS- induced reduction of sperm motility in vitro and may protect from LPS-induced lethality; Defensins, beta

Synonyms:  DEFB114,  DEFB114p,  hDEFB114,  Q30KQ6,  DEFB14 ...

Linkouts:  STRING  Pharos  UniProt  OMIM