MAP3K9
Description
The MAP3K9 (mitogen-activated protein kinase kinase kinase 9) is a protein-coding gene located on chromosome 14.
Mitogen-activated protein kinase kinase kinase 9 is an enzyme that in humans is encoded by the MAP3K9 gene.
MAP3K9 is a serine/threonine kinase that plays a critical role in the MAP kinase signal transduction pathway. It acts as an upstream activator of the MKK/JNK cascade by phosphorylating MAP2K4/MKK4 and MAP2K7/MKK7, which subsequently activate JNKs. This pathway regulates stress responses through activator protein-1 (JUN) and GATA4 transcription factors. MAP3K9 is also involved in the mitochondrial death signaling pathway, including the release of cytochrome c, leading to apoptosis.
MAP3K9 is also known as MEKK9, MLK1, PRKE1.
Associated Diseases
- pachyonychia congenita
- Parkinson disease
- 46,XY complete gonadal dysgenesis
- X-linked intellectual disability-macrocephaly-macroorchidism syndrome
- 46,XX testicular disorder of sex development
- testicular agenesis