SP110 nuclear body protein (SP110)

SP110 nuclear body protein is a leukocyte-specific transcription factor and nuclear body component implicated in the regulation of immune responses. It is primarily active in leukocytes and spleen, helping control gene activity essential for the immune system. SP110 acts as a transcriptional coactivator, including for nuclear hormone receptors and retinoic acid response elements. It is part of the SP100/SP140 nuclear body protein family. Mutations can lead to disorders such as hepatic veno-occlusive disease with immunodeficiency, marked by impaired immune function and recurring infections. Variants may also influence risk of neurodegenerative diseases like ALS and spinal muscular atrophy. Several isoforms exist due to alternative splicing, which may alter protein function and disease susceptibility.

Other names

nuclear body protein SP110transcriptional coactivator Sp110SP110_HUMANIFI41IFI75