MAP4K3
Description
The MAP4K3 (mitogen-activated protein kinase kinase kinase kinase 3) is a protein-coding gene located on chromosome 2.
MAP4K3 is a human gene that encodes a protein belonging to the mitogen-activated protein kinase kinase kinase kinase (MAP4K) family. The protein activates key cell signaling effectors, including c-Jun. Multiple isoforms of this protein are produced due to alternative splicing of the gene.
MAP4K3 may be involved in responding to environmental stress and appears to activate the JUN N-terminal pathway.
MAP4K3 is also known as GLK, MAPKKKK3, MEKKK 3, MEKKK3, RAB8IPL1.
Associated Diseases
- common variable immunodeficiency
- isolated agammaglobulinemia
- cancer
- severe combined immunodeficiency due to CARD11 deficiency
- inborn error of immunity
- hyper-IgE recurrent infection syndrome 5, autosomal recessive
- classic Hodgkin lymphoma
- severe combined immunodeficiency due to CTPS1 deficiency
