Target intelligence / Profile preview

Activating signal cointegrator 1 complex subunit 1 (ASCC1)

Target
ASCC1
Molecular classification
Transcription factor, Nuclear protein, DNA damage response complex member, Cofactor/adaptor protein, Other
01

Overview

Activating signal cointegrator 1 complex subunit 1 (ASCC1) is a nuclear protein encoded by the ASCC1 gene. It is a subunit of the ASC-1 transcriptional coactivator complex, which interacts with transcription factors and nuclear receptors to regulate tissue-specific gene transcription. ASCC1 is also part of the DNA damage response ASCC complex, playing a pivotal role in DNA repair mechanisms. It enhances NF-kappa-B, SRF, and AP-1 transactivation and is implicated in the induction of certain genes (e.g., SERPINB2) in response to signaling cues. ASCC1 is highly expressed in the central nervous system and other tissues during development, and its loss-of-function is associated with severe congenital neuromuscular syndromes, including prenatal spinal muscular atrophy and multiple congenital contractures[1][2][6].

Other names
ASCC1CGI-18ASC1p50p50ASC-1 complex subunit p50Trip4 complex subunit p50SMABF2Em:AC022392.3
02

Biological functions

DNA damage repairSignal transductionTranscriptional coactivationCell developmentNeuromuscular junction development
03

Disease associations

Neurodegenerative diseaseSpinal muscular atrophyCongenital bone fractureOther
04

Safety considerations

Loss-of-function can cause severe congenital disorders including spinal muscular atrophy, respiratory distress, and bone fractures[1].

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