LOC729658
Description
Loc729658 is a gene located on chromosome 9p22.3. It encodes a protein known as RIO kinase 2 (RIOK2). RIOK2 is involved in regulating cell division, specifically during the G2/M transition. It phosphorylates and activates Aurora B kinase, which is essential for proper chromosome segregation.
Associated Diseases
Mutations in loc729658 have been linked to several diseases, including:
- Primary microcephaly: A neurodevelopmental disorder characterized by an abnormally small head and brain size.
- Seckel syndrome: A rare genetic disorder characterized by short stature, intellectual disability, and distinctive facial features.
- Joubert syndrome: A genetic disorder that affects brain development and leads to developmental delays, coordination problems, and eye abnormalities.
- Walker-Warburg syndrome: A severe genetic disorder that affects brain and eye development, often resulting in early death.
Did you Know ?
According to a study published in the journal "Developmental Cell," mutations in loc729658 are present in approximately 1% of all individuals with primary microcephaly. This suggests that loc729658 mutations play a significant role in the development of this condition.
