PAXBP1
Description
The PAXBP1 (PAX3 and PAX7 binding protein 1) is a protein-coding gene located on chromosome 21.
The PAXBP1 gene in humans encodes a protein, GC-rich sequence DNA-binding factor homolog, that is involved in regulating transcription, potentially acting as a transcriptional repressor. Alternative splicing of the gene produces three different protein isoforms. Additional transcript variants have also been identified, but their complete sequences are yet to be determined.
PAXBP1 acts as an adapter protein, connecting the transcription factors PAX3 and PAX7 to the histone methylation machinery, playing a crucial role in myogenesis. It associates with a histone methyltransferase complex, specifically responsible for dimethylation and trimethylation of 'Lys-4' on histone H3. PAXBP1 mediates the recruitment of this complex to PAX3 and PAX7 on chromatin, regulating the expression of genes essential for muscle progenitor cell proliferation, including ID3 and CDC20.
PAXBP1 is also known as BM020, C21orf66, FSAP105, GCFC, GCFC1.
Associated Diseases
- colorectal cancer
- major depressive disorder
- Wilson disease
- lymphopenia
- COVID-19
- progressive supranuclear palsy
