IK
Description
The IK (IK cytokine) is a protein-coding gene located on chromosome 5.
IK or Ik may refer to:
IK is involved in pre-mRNA splicing as a component of the spliceosome. It functions as an auxiliary spliceosomal protein, regulating the selection of alternative splice sites in a small set of target pre-mRNA species. IK is essential for normal mitotic cell cycle progression, recruiting MAD1L1 and MAD2L1 to kinetochores to trigger the spindle assembly checkpoint. It also plays a role in the normal accumulation of SMU1.
IK is also known as CSA2, RED, RER.
Associated Diseases
- mitochondrial complex I deficiency
- Leigh syndrome
- retinitis pigmentosa
- isolated ectopia lentis
- aniridia
- upper limb defect-eye and ear abnormalities syndrome
- congenital primary aphakia
- autosomal dominant keratitis
- isolated aniridia
- Leber congenital amaurosis
- congenital glaucoma
- Peters anomaly
- uveal coloboma-cleft lip and palate-intellectual disability
- megalocornea
- macular corneal dystrophy
