kinesin family member 21A
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L 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.
Normal function
L 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).
Conditions referring to this gene or chromosome
Altri nomi
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
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Ulteriori letture e riferimenti
- kinesin family member 21A; MedlinePlus, National Library of Medicine.
- Bianchi S, van Riel WE, Kraatz SH, Olieric N, Frey D, Katrukha EA, Jaussi R, Missimer J, Grigoriev I, Olieric V, Benoit RM, Steinmetz MO, Akhmanova A, Kammerer RA. Structural basis for misregulation of kinesin KIF21A autoinhibition by CFEOM1 disease mutations. Sci Rep. 2016 Aug 3;6:30668. doi: 10.1038/srep30668.
- Cheng L, Desai J, Miranda CJ, Duncan JS, Qiu W, Nugent AA, Kolpak AL, Wu CC, Drokhlyansky E, Delisle MM, Chan WM, Wei Y, Propst F, Reck-Peterson SL, Fritzsch B, Engle EC. Human CFEOM1 mutations attenuate KIF21A autoinhibition and cause oculomotor axon stalling. Neuron. 2014 Apr 16;82(2):334-49. doi: 10.1016/j.neuron.2014.02.038. Epub 2014 Mar 20.
- Demer JL, Clark RA, Engle EC. Magnetic resonance imaging evidence for widespread orbital dysinnervation in congenital fibrosis of extraocular muscles due to mutations in KIF21A. Invest Ophthalmol Vis Sci. 2005 Feb;46(2):530-9. doi: 10.1167/iovs.04-1125.
- Lu S, Zhao C, Zhao K, Li N, Larsson C. Novel and recurrent KIF21A mutations in congenital fibrosis of the extraocular muscles type 1 and 3. Arch Ophthalmol. 2008 Mar;126(3):388-94. doi: 10.1001/archopht.126.3.388.
- Tiab L, d'Alleves Manzi V, Borruat FX, Munier F, Schorderet D. Mutation analysis of KIF21A in congenital fibrosis of the extraocular muscles (CFEOM) patients. Ophthalmic Genet. 2004 Dec;25(4):241-6. doi: 10.1080/13816810490902828.
- van der Vaart B, van Riel WE, Doodhi H, Kevenaar JT, Katrukha EA, Gumy L, Bouchet BP, Grigoriev I, Spangler SA, Yu KL, Wulf PS, Wu J, Lansbergen G, van Battum EY, Pasterkamp RJ, Mimori-Kiyosue Y, Demmers J, Olieric N, Maly IV, Hoogenraad CC, Akhmanova A. CFEOM1-associated kinesin KIF21A is a cortical microtubule growth inhibitor. Dev Cell. 2013 Oct 28;27(2):145-160. doi: 10.1016/j.devcel.2013.09.010. Epub 2013 Oct 10.
- Yamada K, Andrews C, Chan WM, McKeown CA, Magli A, de Berardinis T, Loewenstein A, Lazar M, O'Keefe M, Letson R, London A, Ruttum M, Matsumoto N, Saito N, Morris L, Del Monte M, Johnson RH, Uyama E, Houtman WA, de Vries B, Carlow TJ, Hart BL, Krawiecki N, Shoffner J, Vogel MC, Katowitz J, Goldstein SM, Levin AV, Sener EC, Ozturk BT, Akarsu AN, Brodsky MC, Hanisch F, Cruse RP, Zubcov AA, Robb RM, Roggenkaemper P, Gottlob I, Kowal L, Battu R, Traboulsi EI, Franceschini P, Newlin A, Demer JL, Engle EC. Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). Nat Genet. 2003 Dec;35(4):318-21. doi: 10.1038/ng1261. Epub 2003 Nov 2.
- Yamada K, Chan WM, Andrews C, Bosley TM, Sener EC, Zwaan JT, Mullaney PB, Ozturk BT, Akarsu AN, Sabol LJ, Demer JL, Sullivan TJ, Gottlob I, Roggenkaemper P, Mackey DA, De Uzcategui CE, Uzcategui N, Ben-Zeev B, Traboulsi EI, Magli A, de Berardinis T, Gagliardi V, Awasthi-Patney S, Vogel MC, Rizzo JF 3rd, Engle EC. Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3). Invest Ophthalmol Vis Sci. 2004 Jul;45(7):2218-23. doi: 10.1167/iovs.03-1413.
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