ASCC1 encodes activating signal cointegrator 1 complex subunit 1 (400 aa). Plays a role in DNA damage repair as component of the ASCC complex. Part of the ASC-1 complex that enhances NF-kappa-B, SRF and AP1 transactivation. Highest expression in Cells EBV-transformed lymphocytes (26.9 TPM) and Nerve Tibial (22.0 TPM).

Spinal muscular atrophy with congenital bone fractures 2 is associated with mutations in the ASCC1 gene on chromosome 10.

ASCC1 is classified as a druggable target (Transcription Factor and Transcription Factor Complex categories) with score 0.0.

Genetic testing for ASCC1 is available. Testing is considered confirmatory for diagnosis.

3 FDA-approved treatments are available for spinal muscular atrophy with congenital bone fractures 2, including NUSINERSEN (SPINRAZA, approved 2016), onasemnogene abeparvovec-xioi (Zolgensma, approved 2019), and RISDIPLAM (EVRYSDI, approved 2020).

Approved Therapies

Phenotype severity distribution: 15 always present features.

No clinical trials have been registered for spinal muscular atrophy with congenital bone fractures 2.

3 publications have been identified in PubMed for spinal muscular atrophy with congenital bone fractures 2. Research spans Case Report / Case Series (67%) and Basic Science / Preclinical (33%).

Recent Publications

• Parfenchyk V (2026). [PMID: 41791838](https://pubmed.ncbi.nlm.nih.gov/41791838/). *J Mother Child*. [Case Report / Case Series]

• Civit A (2026). [PMID: 41230573](https://pubmed.ncbi.nlm.nih.gov/41230573/). *Am J Med Genet A*. [Case Report / Case Series]

• Chinnam NB (2024). [PMID: 38750793](https://pubmed.ncbi.nlm.nih.gov/38750793/). *J Biol Chem*. [Basic Science / Preclinical]