Proto-oncogene serine/threonine-protein kinase mos
Developmental stage
Expression decreases after fertilization and is slightly increased in four-cell stage embryos. Expression gradually decreases from eight-cell to blastocyst embryos.
Function
Serine/threonine kinase involved in the regulation of MAPK signaling. Is an activator of the ERK1/2 signaling cascade playing an essential role in the stimulation of oocyte maturation.
Involvement in disease
Oocyte/zygote/embryo maturation arrest 20
OZEMA20
An autosomal recessive, female infertility disorder characterized by early embryonic arrest and fragmentation. Early embryo fragmentation is defined by the presence of anucleate cell fragments derived from the blastomeres. Excessive embryo fragmentation is associated with deleterious outcomes, including decreased implantation rate.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the protein kinase superfamily. Ser/Thr protein kinase family.
Tissue Specificity
Highly expressed in oocytes. Lower expression is detected in early embryo.
Cellular localization
- Cytoplasm
Alternative names
Proto-oncogene serine/threonine-protein kinase mos, Oocyte maturation factor mos, Proto-oncogene c-Mos, MOS