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FLASH GENE
Symbol DEFB126 contributors: mct - updated : 04-05-2021
HGNC name defensin, beta 126
HGNC id 15900
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • signal peptide
  • conserved beta-defensin core, having critical functions in parallel to its C-terminal tail by showing LPS-binding activity, anti-inflammatory effects and intracellular regulatory function
  • a unique long glycosylated peptide tail
    • HOMOLOGY
    Homologene
    FAMILY beta-defensin family
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION extracellular
    basic FUNCTION
  • playing a role in sperm maturation and in the proinflammatory response
  • DEFB126 is critical for efficient transport of sperm in the female reproductive tract, preventing their recognition by the female immune system, and might facilitate the delivery of capacitated sperm to the site of fertilization
  • DEFB126 is important in human sperm maturation
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility to male age infertility
    Variant & Polymorphism other
  • age-related sperm differential methylation that accounted for 64 p100 of the effect of male age on lower fertilization rate
  • common mutation in the defensin DEFB126 causes impaired sperm function and subfertility
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS