GON4L
Description
The GON4L (gon-4 like) is a protein-coding gene located on chromosome 1.
GON4L gene encodes a nuclear protein with two serine phosphosites and a lysine-glutamine cross-link. This protein is suspected to function as a transcription factor.
GON4L acts as a transcriptional repressor, likely within a complex alongside YY1, SIN3A, and HDAC1. It plays a crucial role in B cell lymphopoiesis.
GON4L is also known as GON-4, GON4, YARP.
Associated Diseases
- common variable immunodeficiency
- isolated agammaglobulinemia
- immunodeficiency 105
- immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia
- combined immunodeficiency with skin granulomas
- severe combined immunodeficiency due to CTPS1 deficiency
- immunodeficiency 72 with autoinflammation
- BENTA disease
- T-B+ severe combined immunodeficiency due to JAK3 deficiency
- immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias
