Ankyrin Repeat And SOCS Box Containing 2
ASB-2
Ankyrin Repeat And SOCS Box Protein 2
Ankyrin Repeat And SOCS Box-Containing Protein 2a
Ankyrin Repeat And SOCS Box-Containing 2
This gene encodes a member of the ankyrin repeat and SOCS box-containing (ASB) protein family. These proteins play a role in protein degradation by coupling suppressor of cytokine signalling (SOCS) proteins with the elongin BC complex. The encoded protein is a subunit of a multimeric E3 ubiquitin ligase complex that mediates the degradation of actin-binding proteins. This gene plays a role in retinoic acid-induced growth inhibition and differentiation of myeloid leukemia cells. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]
Forensic Context
A study in mice and humans identified the ASB2 as a novel disease gene for sepsis-induced myocardial dysfunction, where it was found to be down-regulated in heart tissue and validated via qRT-PCR and external datasets [Yao et al. DOI:10.1016/j.ygeno.2024.110911].