Transcription factor that is involved in the regulation of muscle stem cells proliferation, playing a role in myogenesis and muscle regeneration.
Rhabdomyosarcoma 2
RMS2
A form of rhabdomyosarcoma, a highly malignant tumor of striated muscle derived from primitive mesenchymal cells and exhibiting differentiation along rhabdomyoblastic lines. Rhabdomyosarcoma is one of the most frequently occurring soft tissue sarcomas and the most common in children. It occurs in four forms: alveolar, pleomorphic, embryonal and botryoidal rhabdomyosarcomas.
None
The gene represented in this entry is involved in disease pathogenesis. A chromosomal aberration involving PAX7 is found in rhabdomyosarcoma. Translocation t(1;13)(p36;q14) with FOXO1. The resulting protein is a transcriptional activator.
Congenital myopathy 19
CMYO19
An autosomal recessive muscular disorder characterized by infantile onset of progressive muscular atrophy, hypotonia, ptosis, scoliosis and dysmorphic facial features. Disease severity is variable, ranging from mild to severe.
None
The disease is caused by variants affecting the gene represented in this entry.
Acetylation at Lys-105 and Lys-139 by KAT8 is required for high-level transcription factor activity. Deacetylated by SIRT2.
Belongs to the paired homeobox family.
Proteins
Epigenetics
55119Da
We found 9 products in 2 categories
ab187339
ab218472
ab199010
ab218473
ab34360
ab114237