AKIRIN1
Chr 1akirin 1
Also known as: C1orf108, STRF2
AKIRIN1 encodes a nuclear transcriptional coregulator that functions as a molecular adapter in skeletal muscle development and regeneration, serving as a signal transducer for myostatin and regulating myoblast and macrophage chemotaxis through actin cytoskeleton reorganization. The gene is highly constrained against loss-of-function variants, but no definitive human disease associations have been established in the current literature. Any potential disorders would likely involve skeletal muscle development or regeneration given the protein's specific functional role.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
AKIRIN1 · 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 →External Resources
Links to major genomics databases and tools