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ASCC1 encodes a subunit of the activating signal cointegrator 1 (ASC-1) complex. Additionally we are shipping ASCC1 Kits (13) and ASCC1 Proteins (6) and many more products for this protein.
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Our patient was also found to have a homozygous frameshift variant (c.157dupG, p.Glu53Glyfs*19) in ASCC1 , thereby representing the second known case. This confirms ASCC1 involvement in a severe neuromuscular disease lying within the spinal muscular atrophy or primary muscle disease spectra
ASCC1 inhibits NF-kappaB activation and a truncated and inactive variant of ASCC1 is associated with a more severe disease, which could have clinical value for assessing the progression and prognosis of Rheumatoid Arthritis.
Three major genes, MSR1, ASCC1, and CTHRC1 were associated with Barrett esophagus/esophageal adenocarcinoma
Gastrin activates paracrine networks leading to induction of PAI-2 via MAZ and ASC-1.
homozygous and compound-heterozygous nonsense and frameshift TRIP4 and ASCC1 mutations that cosegregated with the Prenatal Spinal Muscular Atrophy and Congenital Bone Fracture phenotype
This gene encodes a subunit of the activating signal cointegrator 1 (ASC-1) complex. The ASC-1 complex is a transcriptional coactivator that plays an important role in gene transactivation by multiple transcription factors including activating protein 1 (AP-1), nuclear factor kappa-B (NF-kB) and serum response factor (SRF). The encoded protein contains an N-terminal KH-type RNA-binding motif which is required for AP-1 transactivation by the ASC-1 complex. Mutations in this gene are associated with Barrett esophagus and esophageal adenocarcinoma. Alternatively spliced transcripts encoding multiple isoforms have been observed for this gene.
activating signal cointegrator 1 complex subunit 1
, ASC-1 complex subunit P50
, trip4 complex subunit p50
, ASC-1 complex subunit p50