KIF16B

Molecular characteristics

Kinesin Family Member 16B, the KIF16B gene, located in 20p12.1, encodes for a kinesin-like protein. KIF16, together with KIF1, KIF13, KIF14, and KIF28, make up the kinesins-3 family. KIF16B is comprised of 1,317 amino acid residues, and it has a similar structure to other kinesins. The only difference is that KIF16B has a PX domain and does not need an adaptor, unlike the other kinesins. The PX domain, which is located in the tail of KIF16B near the C-terminal end, carries out most of this protein’s functions.

To date only a single variant have been associated with pathogenesis. The variant was identified in two Saudi siblings using whole exome sequencing (WES). WES revealed a missense variant that might be the cause of the disease pathogenesis in both sibs. The siblings are both homozygous for the missense variant] [c.3611T>G; p.(Phe1204Cys)] in the KIF16B gene, which is located in the PX domain.