C18orf8 Antibody

Key Research Findings Using C18orf8 Antibodies

C18orf8 antibodies have been instrumental in uncovering the protein’s role in:

Cholesterol Homeostasis

• C18orf8 is a core component of the Mon1-Ccz1-C18orf8 (MCC) complex, which activates Rab7 GTPase to license lysosomal cholesterol export via NPC1 .

• Knockout studies (C18orf8⁻/⁻ cells) revealed defective Rab7 activation, leading to lysosomal cholesterol accumulation and impaired LDL-cholesterol trafficking .

Endosomal-Lysosomal Trafficking

• C18orf8 deficiency causes enlarged late endosomes/lysosomes (LE/Ly) and disrupted autophagic flux .

• Active Rab7 (regulated by MCC) binds NPC1, facilitating cholesterol export .

Autophagy Regulation

• C18orf8 (renamed RMC1) stabilizes the Mon1-Ccz1 complex, enabling Rab7 localization to endosomes and autophagosomes .

• Loss of C18orf8 results in p62/ubiquitin aggregate accumulation, indicative of impaired autophagy .

Validation and Technical Considerations

• Specificity: Antibodies are validated using C18orf8 knockout cell lines (e.g., HeLa, HEK-293) to confirm loss of signal .

• Applications:

  • Immunoblotting: Detects endogenous C18orf8 (~72 kDa) .

  • Immunofluorescence: Localizes C18orf8 to Rab7+ late endosomes and LAMP1+ lysosomes .

  • Immunohistochemistry: Used in tissue studies to map expression patterns .

Disease Relevance

C18orf8 dysregulation is implicated in:

• Cancer: Altered expression in colon cancer .

• Neurodegeneration: Defective autophagic flux parallels pathologies seen in ALS and Parkinson’s disease .

• Lysosomal Storage Disorders: NPC1 dysfunction mimics cholesterol trafficking defects in C18orf8⁻/⁻ cells .

Future Directions

C18orf8 antibodies will remain pivotal for:

• Mapping MCC complex interactions in cholesterol metabolism.

• Developing therapeutic strategies targeting Rab7-NPC1 axis disorders.

• Validating C18orf8 as a biomarker in cancer and neurodegenerative diseases .