The KIF21A gene provides instructions for making a protein that is part of the kinesin family. Many proteins in the kinesin family are essential for the transport of materials within cells. Kinesin proteins function like freight trains that transport cargo along a track-like system made from structures called microtubules. Some kinesins also help maintain microtubules. As well as functioning like a track, microtubules make up the structural framework of cells and help cells move.
The KIF21A protein is found in nerve cells (neurons) and many other cell types. Researchers believe that this protein plays an important role in neuron development by helping control the growth of microtubules. By blocking microtubule growth at critical times, the KIF21A protein may help direct the path of neuron extensions known as axons so they can reach their correct locations. Once in the right position, axons relay messages to and from the brain to control muscle movement and detect sensations such as touch, pain, and heat.
For proper neuron development, the KIF21A protein must be turned on and off at particular times. When a segment of the protein known as the regulatory region interacts with another segment of the protein known as the motor domain, the protein is turned off (which is known as autoinhibition).
Other Names
CFEOM; CFEOM1; DKFZp779C159; FEOM; FEOM1; Fibrosis of extraocular muscles, congenital, 1, autosomal dominant; fibrosis of the extraocular muscles, congenital, 1; FLJ20052; KI21A_HUMAN; KIAA1708; KIF2; KIF21A variant protein; Kinesin-like protein KIF2; Kinesin-like protein KIF21A; NY-REN-62 antigen; Renal carcinoma antigen NY-REN-62
Related Genetics Topics
Identifiers
- NCBI Gene: 55605
- OMIM: 608283
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
