Ask about this productRelated genes to: Ascc1 Blocking Peptide
- 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 Blocking Peptide
Related articles to: Ascc1 Blocking Peptide
- 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
Civit AKerbellec LLaurenceau DUng D CMoizard M PRonce NGueguen PLaumonnier FBréhin A CMarguet FLaquerrière ABergemer Fouquet A MCirier JBlesson SArpin SJeanne MVuillaume M L - Neuropathic pain is a common and debilitating symptom with limited treatment options. Genetic studies, which can provide vital evidence for drug development, have identified only 3 genome-wide significant signals for neuropathic pain traits. To address this, we performed the largest genome-wide association study (GWAS) to date of all-cause neuropathic pain and neuropathic pain subtypes. We defined all-cause neuropathic pain and 33 neuropathic pain subtypes using DeepPheWAS software in the UK Biobank, taking advantage of the longitudinal drug prescription data alongside clinical and self-reported records. We performed a GWAS of all-cause neuropathic pain (33,278 cases, 140,134 controls) as our primary analysis and GWASs of neuropathic pain subtypes as secondary analyses. We used 8 variant-to-gene criteria to identify putative causal genes. We identified 7 independent novel genome-wide associations for neuropathic pain phenotypes, which mapped to 22 novel putative causal genes. NCAM1 was the only gene identified from the primary analysis of all-cause neuropathic pain and met the most variant-to-gene criteria (4) of any identified gene. Of the 21 other genes, ASCC1, CHST3, C4A/C4B , and KCNN2 had the most compelling evidence for mechanistic involvement in neuropathic pain. We have performed the largest GWAS to date of all-cause neuropathic pain and more than doubled the number of genome-wide significant associations for neuropathic pain traits, identifying putative causal genes. There is strong evidence for the involvement of NCAM1 in neuropathic pain, which merits for further study for drug development. - Source: PubMed
Publication date: 2025/09/03
Packer RichardColey KayeshaWilliams Alexander TShrine NickIzquierdo Abril GChen JingBatini ChiaraMarttila MikkoRao Balasubramanya SBratty RaymondDudbridge FrankHennah WilliamTobin Martin D - The Activating Signal Cointegrator 1 (ASC-1) complex is a tetrameric complex composed of Thyroid Hormone Receptor Interactor 4 (TRIP4), Activating Signal Cointegrator 1 (ASCC1), Activating Signal Cointegrator 2 (ASCC2), and Activating Signal Cointegrator 3 (ASCC3). As the core subunit of the ASC-1 complex, ASCC3 is involved in DNA damage repair. However, the exact role of ASCC3 in digestive system cancers, particularly in rectal adenocarcinoma (READ), remains unclear. - Source: PubMed
Publication date: 2025/08/13
Miao ChuangQian Fei