KIF21A explained

Kinesin-like protein KIF21A is a protein that in humans is encoded by the KIF21A gene.^{[1] [2]}

KIF21A belongs to a family of plus end-directed kinesin motor proteins. Neurons use kinesin and dynein microtubule-dependent motor proteins to transport essential cellular components along axonal and dendritic microtubules.

Further reading

• Yamada K, Hunter DG, Andrews C, Engle EC . A novel KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and Marcus Gunn jaw-winking phenomenon . Arch. Ophthalmol. . 123 . 9 . 1254–1259 . 2005 . 16157808 . 10.1001/archopht.123.9.1254 .
• Engle EC, Kunkel LM, Specht LA, Beggs AH . Mapping a gene for congenital fibrosis of the extraocular muscles to the centromeric region of chromosome 12 . Nat. Genet. . 7 . 1 . 69–73 . 1994 . 8075644 . 10.1038/ng0594-69 . 8041627 .
• Ishikawa K . Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro . DNA Res. . 5 . 3 . 169–176 . 1998 . 9734811 . 10.1093/dnares/5.3.169 . vanc. Nagase T . Suyama M . 3 . Miyajima . N . Tanaka . A . Kotani . H . Nomura . N . Ohara . O . free .
• Scanlan MJ . Antigens recognized by autologous antibody in patients with renal-cell carcinoma . Int. J. Cancer . 83 . 4 . 456–464 . 1999 . 10508479 . 10.1002/(SICI)1097-0215(19991112)83:4<456::AID-IJC4>3.0.CO;2-5 . vanc. Gordan JD . Williamson B . 3 . Stockert . Elisabeth . Bander . Neil H. . Jongeneel . Victor . Gure . Ali O. . Jäger . Dirk . Jäger . Elke . 21839750 .
• Nagase T . Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro . DNA Res. . 7 . 6 . 347–355 . 2001 . 11214970 . 10.1093/dnares/7.6.347 . vanc. Kikuno R . Hattori A . 3 . Kondo . Y . Okumura . K . Ohara . O . free .
• Strausberg RL . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–16903 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . vanc. Feingold EA . Grouse LH . 3 . Derge . JG . Klausner . RD . Collins . FS . Wagner . L . Shenmen . CM . Schuler . GD . 2002PNAS...9916899M . free .
• Magli A, de Berardinis T, D'Esposito F, Gagliardi V . Clinical and surgical data of affected members of a classic CFEOM I family . BMC Ophthalmology . 3. 6 . 2004 . 12702216 . 10.1186/1471-2415-3-6. 155649 . free .
• Yamada K . Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1) . Nat. Genet. . 35 . 4 . 318–321 . 2004 . 14595441 . 10.1038/ng1261 . vanc. Andrews C . Chan WM . 3 . McKeown . Craig A . Magli . Adriano . De Berardinis . Teresa . Loewenstein . Anat . Lazar . Moshe . O'Keefe . Michael . 3238099 .
• Ota T . Complete sequencing and characterization of 21,243 full-length human cDNAs . Nat. Genet. . 36 . 1 . 40–45 . 2004 . 14702039 . 10.1038/ng1285 . vanc. Suzuki Y . Nishikawa T . 3 . Otsuki . Tetsuji . Sugiyama . Tomoyasu . Irie . Ryotaro . Wakamatsu . Ai . Hayashi . Koji . Sato . Hiroyuki . free .
• Yamada K . Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3) . Invest. Ophthalmol. Vis. Sci. . 45 . 7 . 2218–2223 . 2004 . 15223798 . 10.1167/iovs.03-1413 . vanc. Chan WM . Andrews C . 3 . Bosley . TM . Sener . EC . Zwaan . JT . Mullaney . PB . Oztürk . BT . Akarsu . AN . free .
• Gerhard DS . The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC) . Genome Res. . 14 . 10B . 2121–2127 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 . vanc. Wagner L . Feingold EA . 3 . Shenmen . CM . Grouse . LH . Schuler . G . Klein . SL . Old . S . Rasooly . R .
• Tiab L . Mutation analysis of KIF21A in congenital fibrosis of the extraocular muscles (CFEOM) patients . Ophthalmic Genet. . 25 . 4 . 241–246 . 2005 . 15621876 . 10.1080/13816810490902828 . vanc. d'Allèves Manzi V . Borruat FX . 3 . Munier . Francis . Schorderet . Daniel . 25937983 .
• Ali M, Venkatesh C, Ragunath A, Kumar A . Mutation analysis of the KIF21A gene in an Indian family with CFEOM1: implication of CpG methylation for most frequent mutations . Ophthalmic Genet. . 25 . 4 . 247–255 . 2005 . 15621877 . 10.1080/13816810490498198 . 21494906 .
• 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. . 46 . 2 . 530–539 . 2005 . 15671279 . 10.1167/iovs.04-1125 .
• Lin LK . KIF21A gene c.2860C>T mutation in congenital fibrosis of extraocular muscles type 1 and 3 . Mol. Vis. . 11 . 245–8 . 2006 . 15827546 . vanc. Chien YH . Wu JY . 3 . Wang . AH . Chiang . SC . Hwu . WL .
• Shimizu S, Okinaga A, Maruo T . Recurrent mutation of the KIF21A gene in Japanese patients with congenital fibrosis of the extraocular muscles . Jpn. J. Ophthalmol. . 49 . 6 . 443–447 . 2006 . 16365788 . 10.1007/s10384-005-0243-7 . 189785805 .
• Chan WM . Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1 . BMC Genet. . 8. 26 . 2007 . 17511870 . 10.1186/1471-2156-8-26 . 1888713 . vanc. Andrews C . Dragan L . 3 . Fredrick . Douglas . Armstrong . Linlea . Lyons . Christopher . Geraghty . Michael T . Hunter . David G . Yazdani . Ahmad . free .

External links

• Engle Laboratory CFEOM page
• GeneReviews/NCBI/NIH/UW entry on Congenital Fibrosis of the Extraocular Muscles
• OMIM entries on Congenital Fibrosis of the Extraocular Muscles

Notes and References

1. Marszalek JR, Weiner JA, Farlow SJ, Chun J, Goldstein LS . Novel dendritic kinesin sorting identified by different process targeting of two related kinesins: KIF21A and KIF21B . J Cell Biol . 145 . 3 . 469–479 . Jun 1999 . 10225949 . 2185086 . 10.1083/jcb.145.3.469 .
2. Web site: Entrez Gene: KIF21A kinesin family member 21A.