DEFB121

Chr 20

defensin beta 121

Also known as: DEFB21, ESC42RELC

NCBI Gene: 245934 ENSG00000204548 UniProt: Q5J5C9 OMIM: 616075

This gene encodes a beta-defensin, an antimicrobial peptide that has antibacterial activity and protects tissues from microbial infections. 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 DEFB121 mutations. Current evidence does not support a role for this gene in pediatric neurogenetic disorders.

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. This gene is found in a cluster with other beta-defensin genes on the long arm of chromosome 20. Two transcript variants encoding different isoforms have been found for this gene. [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