DEFB118

Chr 20

defensin beta 118

Also known as: C20orf63, DEFB-18, ESC42, ESP13.6

NCBI Gene: 117285 ENSG00000131068 UniProt: Q96PH6 OMIM: 607650

This protein is a beta-defensin antimicrobial peptide that exhibits broad-spectrum antibacterial activity against both Gram-positive and Gram-negative bacteria and contributes to innate immunity, particularly in reproductive tissues. The gene shows low constraint to loss-of-function variation (pLI 0.10, LOEUF 1.88), and no established Mendelian diseases have been associated with DEFB118 mutations in current medical literature.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a member of the beta subfamily of defensins. Beta-defensins are antimicrobial peptides that protect tissues and organs from infection by a variety of microorganisms. Expression of this gene is regulated by androgen, and the encoded protein binds to sperm and exhibits antibacterial activity against E. coli. This gene is found in a cluster with other beta-defensin genes on the long arm of chromosome 20. [provided by RefSeq, Nov 2014]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.88

LOEUF

Multiple*

Mechanism· predicted