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Beta-defensin 123 (DEFB123)

Target: DEFB123
Molecular classification: Antimicrobial peptide, Beta-defensin protein family, Other (structural protein with immune function)

Overview

Beta-defensin 123 (DEFB123) is a secreted antimicrobial peptide characterized by a conserved six-cysteine motif, contributing to the host's innate immunity against microorganisms in the male reproductive tract[1][3][4]. It is mainly expressed in the testis and epididymis, where it supports sperm maturation, protection from pathogens, and helps maintain fertility[1][3][4]. Multiple transcript variants exist; the principal protein-coding transcript is clustered on chromosome 20q11.1 and likely regulated by androgens, reflecting its reproductive tissue specificity[1][3].

Other names: Beta-defensin 123DEFB123DEFB23UNQ1963/PRO4485DEFB-23Beta-defensin 23Defensin, beta 123beta defensin 23ESC42-RELDTestis/epididymis-specific beta-defensin 123

Biological functions

Innate immune defense (antimicrobial activity against bacteria)Immune response (host protection against microorganisms)Sperm maturation and protection (maturation and protection of spermatozoa during transit in epididymis)Possible reproductive specialization (regulated by androgens, linked to male fertility)

Disease associations

Infection (potential role in resistance to microbial infection in male reproductive tract)Possible association with testicular malignant germ cell cancer and Pontocerebellar hypoplasia, type 3 (genetic linkage, not validated as a direct driver)Other (no established disease causality, but possible involvement in reproductive/infectious disorders)

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