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ASCC1 encodes a subunit of the activating signal cointegrator 1 (ASC-1) complex.
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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 (zeige NFKB1 ELISA Kits) 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 (zeige MSR1 ELISA Kits), ASCC1, and CTHRC1 (zeige CTHRC1 ELISA Kits) were associated with Barrett esophagus/esophageal adenocarcinoma
Gastrin (zeige GAST ELISA Kits) activates paracrine networks leading to induction of PAI-2 via MAZ and ASC-1.
homozygous and compound-heterozygous nonsense and frameshift TRIP4 (zeige TRIP4 ELISA Kits) 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