ASCC1
Function
Plays a role in DNA damage repair as component of the ASCC complex (PubMed:29997253). Part of the ASC-1 complex that enhances NF-kappa-B, SRF and AP1 transactivation (PubMed:12077347). In cells responding to gastrin-activated paracrine signals, it is involved in the induction of SERPINB2 expression by gastrin. May also play a role in the development of neuromuscular junction.
Involvement in disease
Barrett esophagus
BE
A condition characterized by a metaplastic change in which normal esophageal squamous epithelium is replaced by a columnar and intestinal-type epithelium. Patients with Barrett esophagus have an increased risk of esophageal adenocarcinoma. The main cause of Barrett esophagus is gastroesophageal reflux. The retrograde movement of acid and bile salts from the stomach into the esophagus causes prolonged injury to the esophageal epithelium and induces chronic esophagitis, which in turn is believed to trigger the pathologic changes.
None
The gene represented in this entry may be involved in disease pathogenesis.
Spinal muscular atrophy with congenital bone fractures 2
SMABF2
An autosomal recessive neuromuscular disorder characterized by prenatal-onset spinal muscular atrophy, multiple congenital contractures consistent with arthrogryposis multiplex congenita, respiratory distress, and congenital bone fractures.
None
The disease is caused by variants affecting the gene represented in this entry.
Tissue Specificity
Ubiquitous.
Cellular localization
- Nucleus
- Nucleus speckle
- Colocalizes with PRPF8 in nuclear speckles in the absence of DNA damage.
Alternative names
CGI-18, ASCC1, Activating signal cointegrator 1 complex subunit 1, ASC-1 complex subunit p50, Trip4 complex subunit p50