ASCC1
Chr 10ARactivating signal cointegrator 1 complex subunit 1
Also known as: ASC1p50, CGI-18, SMABF2, p50
The protein functions as a subunit of the activating signal cointegrator 1 (ASC-1) complex, which serves as a transcriptional coactivator for multiple transcription factors including AP-1, NF-kappa-B, and serum response factor, and also participates in DNA damage repair. Autosomal recessive mutations cause spinal muscular atrophy with congenital bone fractures, affecting both the neuromuscular system and skeletal development from birth. The gene shows relatively high tolerance to loss-of-function variants based on population data.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ASCC1 · 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