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Differentially expressed in FDCP 8 homolog (DEF8)
- Target
- DEF8
- Molecular classification
- Other
01
Overview
Differentially expressed in FDCP 8 homolog (DEF8) is a protein encoded by the DEF8 gene that plays a key role in the regulation of lysosomal positioning, bone resorption, and ruffle assembly in osteoclasts. DEF8 is implicated in autophagy pathways, maintaining cellular homeostasis, and responding to cellular stress. In neurological settings, DEF8 is upregulated in Alzheimer’s disease and has been shown to colocalize with α-synuclein in Lewy bodies in Parkinson's disease, suggesting a potential role in protein aggregate management and turnover. While research increasingly points to DEF8’s involvement in disease conditions, especially neurodegenerative diseases and rare bone disorders, it is not currently viewed as a canonical drug target, and no approved drugs or documented mechanisms of action are known to target this protein[1][2].
- Other names
- DEF8DEF-8FLJ20186differentially expressed in FDCP 8 homolog
02
Biological functions
Lysosome localizationRegulation of bone resorptionRegulation of ruffle assemblyRegulation of autophagyCellular homeostasis
03
Disease associations
OsteopetrosisAlzheimer's diseaseParkinson’s disease (presence in Lewy bodies)
04
Biomarkers
DEF8 protein levels in lymphocytes and neurons (potential biomarker in Alzheimer's and mild cognitive impairment)
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