KIF21A


KIF21A

Kinesin family member 21A, also known as KIF21A, is a human gene.cite web | title = Entrez Gene: KIF21A kinesin family member 21A| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=55605| accessdate = ]

PBB_Summary
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summary_text = KIF21A belongs to a family of plus end-directed kinesin (see MIM 600025) motor proteins. Neurons use kinesin and dynein (see MIM 600112) microtubule-dependent motor proteins to transport essential cellular components along axonal and dendritic microtubules. [supplied by OMIM] cite web | title = Entrez Gene: KIF21A kinesin family member 21A| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=55605| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Yamada K, Hunter DG, Andrews C, Engle EC |title=A novel KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and Marcus Gunn jaw-winking phenomenon. |journal=Arch. Ophthalmol. |volume=123 |issue= 9 |pages= 1254–9 |year= 2005 |pmid= 16157808 |doi= 10.1001/archopht.123.9.1254
*cite journal | author=Engle EC, Kunkel LM, Specht LA, Beggs AH |title=Mapping a gene for congenital fibrosis of the extraocular muscles to the centromeric region of chromosome 12. |journal=Nat. Genet. |volume=7 |issue= 1 |pages= 69–73 |year= 1994 |pmid= 8075644 |doi= 10.1038/ng0594-69
*cite journal | author=Ishikawa K, Nagase T, Suyama M, "et al." |title=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. |journal=DNA Res. |volume=5 |issue= 3 |pages= 169–76 |year= 1998 |pmid= 9734811 |doi=
*cite journal | author=Marszalek JR, Weiner JA, Farlow SJ, "et al." |title=Novel dendritic kinesin sorting identified by different process targeting of two related kinesins: KIF21A and KIF21B. |journal=J. Cell Biol. |volume=145 |issue= 3 |pages= 469–79 |year= 1999 |pmid= 10225949 |doi=
*cite journal | author=Scanlan MJ, Gordan JD, Williamson B, "et al." |title=Antigens recognized by autologous antibody in patients with renal-cell carcinoma. |journal=Int. J. Cancer |volume=83 |issue= 4 |pages= 456–64 |year= 1999 |pmid= 10508479 |doi=
*cite journal | author=Nagase T, Kikuno R, Hattori A, "et al." |title=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. |journal=DNA Res. |volume=7 |issue= 6 |pages= 347–55 |year= 2001 |pmid= 11214970 |doi=
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Magli A, de Berardinis T, D'Esposito F, Gagliardi V |title=Clinical and surgical data of affected members of a classic CFEOM I family. |journal=BMC ophthalmology |volume=3 |issue= |pages= 6 |year= 2004 |pmid= 12702216 |doi=
*cite journal | author=Yamada K, Andrews C, Chan WM, "et al." |title=Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). |journal=Nat. Genet. |volume=35 |issue= 4 |pages= 318–21 |year= 2004 |pmid= 14595441 |doi= 10.1038/ng1261
*cite journal | author=Ota T, Suzuki Y, Nishikawa T, "et al." |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285
*cite journal | author=Yamada K, Chan WM, Andrews C, "et al." |title=Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3). |journal=Invest. Ophthalmol. Vis. Sci. |volume=45 |issue= 7 |pages= 2218–23 |year= 2004 |pmid= 15223798 |doi=
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504
*cite journal | author=Tiab L, d'Allèves Manzi V, Borruat FX, "et al." |title=Mutation analysis of KIF21A in congenital fibrosis of the extraocular muscles (CFEOM) patients. |journal=Ophthalmic Genet. |volume=25 |issue= 4 |pages= 241–6 |year= 2005 |pmid= 15621876 |doi= 10.1080/13816810490902828
*cite journal | author=Ali M, Venkatesh C, Ragunath A, Kumar A |title=Mutation analysis of the KIF21A gene in an Indian family with CFEOM1: implication of CpG methylation for most frequent mutations. |journal=Ophthalmic Genet. |volume=25 |issue= 4 |pages= 247–55 |year= 2005 |pmid= 15621877 |doi= 10.1080/13816810490498198
*cite journal | author=Demer JL, Clark RA, Engle EC |title=Magnetic resonance imaging evidence for widespread orbital dysinnervation in congenital fibrosis of extraocular muscles due to mutations in KIF21A. |journal=Invest. Ophthalmol. Vis. Sci. |volume=46 |issue= 2 |pages= 530–9 |year= 2005 |pmid= 15671279 |doi= 10.1167/iovs.04-1125
*cite journal | author=Lin LK, Chien YH, Wu JY, "et al." |title=KIF21A gene c.2860C>T mutation in congenital fibrosis of extraocular muscles type 1 and 3. |journal=Mol. Vis. |volume=11 |issue= |pages= 245–8 |year= 2006 |pmid= 15827546 |doi=
*cite journal | author=Shimizu S, Okinaga A, Maruo T |title=Recurrent mutation of the KIF21A gene in Japanese patients with congenital fibrosis of the extraocular muscles. |journal=Jpn. J. Ophthalmol. |volume=49 |issue= 6 |pages= 443–7 |year= 2006 |pmid= 16365788 |doi= 10.1007/s10384-005-0243-7
*cite journal | author=Chan WM, Andrews C, Dragan L, "et al." |title=Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1. |journal=BMC Genet. |volume=8 |issue= |pages= 26 |year= 2007 |pmid= 17511870 |doi= 10.1186/1471-2156-8-26

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