Gene: ASCC1

Alternate names for this Gene: ASC1p50|CGI-18|SMABF2|p50

Gene Summary: 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.

Gene is located in Chromosome: 10

Location in Chromosome : 10q22.1

Description of this Gene: activating signal cointegrator 1 complex subunit 1

Type of Gene: protein-coding

rs11000212 in ASCC1 gene and Body mass index PMID 30045251 2018 Causal association of body mass index with hypertension using a Mendelian randomization design.