Gene: CKAP5

Alternate names for this Gene: CHTOG|MSPS|TOG|TOGp|ch-TOG

Gene Summary: This gene encodes a cytoskeleton-associated protein which belongs to the TOG/XMAP215 family. The N-terminal half of this protein contains a microtubule-binding domain and the C-terminal half contains a KXGS motif for binding tubulin dimers. This protein has two distinct roles in spindle formation; it protects kinetochore microtubules from depolymerization and plays an essential role in centrosomal microtubule assembly. This protein may be necessary for the proper interaction of microtubules with the cell cortex for directional cell movement. It also plays a role in translation of the myelin basic protein (MBP) mRNA by interacting with heterogeneous nuclear ribonucleoprotein (hnRNP) A2, which associates with MBP. Alternatively spliced transcript variants encoding different isoforms have been identified.

Gene is located in Chromosome: 11

Location in Chromosome : 11p11.2

Description of this Gene: cytoskeleton associated protein 5

Type of Gene: protein-coding

rs1007738 in CKAP5 gene and Bone Density PMID 19079262 2009 New sequence variants associated with bone mineral density.

PMID 29304378 2018 Life-Course Genome-wide Association Study Meta-analysis of Total Body BMD and Assessment of Age-Specific Effects.

rs11038993 in CKAP5 gene and von Willebrand's factor (lab test) PMID 23381943 2013 Ischemic stroke is associated with the ABO locus: the EuroCLOT study.