rs146335986

This variant is located in the DEFB114 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About DEFB114

Defensins form a family of antimicrobial and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. The protein encoded by this gene is a beta-defensin with antimicrobial activity against E. coli, S. aureus, and C. albicans. The encoded protein also binds and neutralizes lipopolysaccharide (LPS), a factor involved in inflammatory diseases and male reproductive issues. [provided by RefSeq, Nov 2014]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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