Ask about this productRelated genes to: Ascc1 antibody
- Gene:
- ASCC1 NIH gene
- Name:
- activating signal cointegrator 1 complex subunit 1
- Previous symbol:
- -
- Synonyms:
- CGI-18, ASC1p50, Em:AC022392.3
- Chromosome:
- 10q22.1
- Locus Type:
- gene with protein product
- Date approved:
- 2004-03-17
- Date modifiied:
- 2014-11-19
Related products to: Ascc1 antibody
Related articles to: Ascc1 antibody
- Spinal muscular atrophy with congenital bone fractures type 2 (SMABF2) is an ultra-rare neuromuscular disorder caused by pathogenic variants affecting the ASC-1 complex, most commonly ASCC1. The disorder is typically characterized by severe congenital hypotonia, prenatal or congenital fractures, and early respiratory failure. We report a girl with a novel homozygous intronic donor-site variant, c.95+5G>C, in ASCC1. In contrast to the classic SMABF2 phenotype, she had no congenital fractures and survived until 7 years of age. Her clinical presentation included generalized hypotonia, areflexia, minimal spontaneous movements, dysmorphic features related to fetal hypomobility, progressive respiratory insufficiency requiring tracheostomy and gastrostomy, and cardiac involvement. This case expands both the genetic and phenotypic spectrum of ASCC1-associated disease. The comparatively prolonged survival and absence of congenital fractures suggest that not all ASCC1 variants result in a fully loss-of-function phenotype. However, this interpretation remains hypothetical because functional RNA studies were not performed. - Source: PubMed
Publication date: 2026/05/25
Paprocka JustynaŚciślicka-Stelmach AdriannaBieczek DominikaServais Laurent - Small nucleolar RNA SNORD50A and SNORD50B (SNORD50A/B) have increasingly been linked to tumorigenesis due to their high frequency of deletion across multiple cancer types. However, their biological roles in non-small-cell lung cancer (NSCLC) remain to be systematically investigated. In this study, we observed that SNORD50A/B were frequently deleted in lung adenocarcinomas, and this molecular event was strongly linked to poor patient survival. Subsequent in vitro and in vivo studies demonstrated the tumor-suppressive role of SNORD50A/B in NSCLC. Mechanistically, SNORD50A/B directly bound to activating signal cointegrator 1 complex subunit 1 (ASCC1), preventing its interaction with activating signal cointegrator 1 (ASC-1) and disrupting the integrity of ASC-1 complex, which attenuates NF-κB transcriptional activity and down-regulates PD-L1 expression. Synthetic Snord50a/b-loaded cationic liposomes showed potent anti-tumor effects and sensitized NSCLC cells to anti-PD-1 immunotherapy. Taken together, SNORD50A/B exert tumor-suppressive effects by disrupting the ASC-1 complex to silence NF-κB, highlighting its therapeutic potential via cationic liposomes for treating SNORD50A/B-deficient tumors. - Source: PubMed
Publication date: 2026/05/25
Ma JingjingHe QingyuanPu JunLiu YanCui XiaoWang GuobinChen QuanRen LeLi MengdanHou Peng - Spinal muscular atrophy with congenital bone fractures is a rare, severe neuromuscular disorder with autosomal recessive inheritance, characterised by hypotonia, congenital contractures, and respiratory distress. We present the case of a newborn girl with a homozygous mutation in the ASCC1 gene, who was diagnosed with hypoxic-ischaemic encephalopathy after birth and underwent therapeutic hypothermia (TH). Although TH did not cause any side effects, it also did not improve the prognosis or quality of life of the patient. The decision whether to perform TH in neonates with congenital or genetic abnormalities remains challenging. Current exclusion criteria for TH should be re-evaluated to support clinicians in determining whether to include newborns with severe congenital abnormalities but favourable neurological prognosis, and conversely, to exclude those with congenital or suspected genetic syndromes associated with poor life expectancy and quality of life, in order to avoid futile interventions. - Source: PubMed
Publication date: 2026/03/06
Parfenchyk ViktoryiaJagła Mateusz - Genetic predisposition to obesity can stimulate an increase in adiposity throughout adulthood. However, the interaction between genetic factors and dietary habits may modify the genetic association with obesity. Thus, this study aimed to investigate the dietary patterns that influence the genetic risk of obesity in a Korean population using a large cohort study and genome-wide association study. - Source: PubMed
Publication date: 2026/02/12
Jang Min-JaeChung SangwonLim KyungjoonShin SangahKim Jun-Mo - Spinal muscular atrophy with congenital bone fractures 2 is a rare and severe autosomal recessive neuromuscular disorder caused by pathogenic variants in ASCC1. This condition characterized by prenatal onset of severe hypotonia with fetal hypokinesia and congenital contractures results in arthrogryposis multiplex congenita, and increased incidence of prenatal fractures. To date, only truncating variants, loss of function and splicing variants have been described. Here, we report the first homozygous missense variant in ASCC1 identified prenatally in two full siblings with fetal akinesia deformation sequence. This variant affects a highly conserved residue within the RNA-ligase-like domain and leads to a nearly total absence of ASCC1 protein in muscle. This report broadens the knowledge on the pathogenesis of this disorder showing that missense variants should also be considered. It also highlights the importance of precise ultrasound examination combined with molecular genetic testing in the prenatal diagnosis of this severe neuromuscular disorder. - Source: PubMed
Publication date: 2025/11/13
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