F8A2
Chr Xcoagulation factor VIII associated 2
Also known as: HAP40
The F8A2 protein functions as a RAB5A effector that regulates vesicular trafficking of early endosomes by mediating recruitment of huntingtin protein and modulating endosome interactions with cytoskeletal elements. The clinical significance of F8A2 mutations in human disease is currently unknown, as no specific neurological or developmental disorders have been definitively linked to this gene. This X-linked gene shows evolutionary conservation and broad tissue expression, suggesting potential functional importance despite the lack of established disease associations.
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
F8A2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →No open access results found
External Resources
Links to major genomics databases and tools