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Gene Review

KIF21A  -  kinesin family member 21A

Homo sapiens

Synonyms: CFEOM1, FEOM1, FEOM3A, FLJ20052, KIAA1708, ...
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Disease relevance of KIF21A

  • Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3) [1].
  • In addition, among our previously described patients with CFEOM and KIF21A mutations, 3 individuals had MG and 1 had hypertropia during toothbrushing [2].
  • Eighteen affected individuals had congenital bilateral ptosis and restrictive infraductive (downward) ophthalmoplegia, consistent with the published descriptions of classic CFEOM families linked to the CFEOM1 locus [3].
  • Main outcome measure: Presence or absence of mutation in PHOX2A gene in two siblings with exotropia and recessive CFEOM [4].
  • METHODS: Clinical examination of one patient with CFEOM1, one family with clinical features of CFEOM2, one family with recessive CFEOM3, one family with horizontal gaze palsy and progressive scoliosis (HGPPS), and four patients with various combinations of congenital cranial nerve abnormalities [5].

High impact information on KIF21A


Biological context of KIF21A

  • Although KIF21A is the first gene to be associated with CFEOM3, the results imply that mutations in the unidentified FEOM3 gene are the more common cause of this phenotype [1].
  • CONCLUSIONS: Orbital imaging in CFEOM1 due to various amino acid substitutions in the kinesin KIF21A demonstrates consistent abnormalities of motor and sensory innervation in the orbit [9].
  • METHODS: Linkage analysis with microsatellite markers at chromosome 12q and direct sequence analysis of the KIF21A gene were performed on three families and one sporadic CFEOM case [10].
  • METHODS: Mutational analysis was carried out by direct automated sequencing of the PCR products from exons 8, 20, and 21 of the KIF21A gene [11].
  • We have previously determined that a CFEOM1 gene maps to the FEOM1 locus on chromosome 12cen [12].

Anatomical context of KIF21A


Associations of KIF21A with chemical compounds


Other interactions of KIF21A


Analytical, diagnostic and therapeutic context of KIF21A


  1. Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3). Yamada, K., Chan, W.M., Andrews, C., Bosley, T.M., Sener, E.C., Zwaan, J.T., Mullaney, P.B., Oztürk, B.T., Akarsu, A.N., Sabol, L.J., Demer, J.L., Sullivan, T.J., Gottlob, I., Roggenkäemper, P., Mackey, D.A., De Uzcategui, C.E., Uzcategui, N., Ben-Zeev, B., Traboulsi, E.I., Magli, A., de Berardinis, T., Gagliardi, V., Awasthi-Patney, S., Vogel, M.C., Rizzo, J.F., Engle, E.C. Invest. Ophthalmol. Vis. Sci. (2004) [Pubmed]
  2. A novel KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and Marcus Gunn jaw-winking phenomenon. Yamada, K., Hunter, D.G., Andrews, C., Engle, E.C. Arch. Ophthalmol. (2005) [Pubmed]
  3. A clinically variant fibrosis syndrome in a Turkish family maps to the CFEOM1 locus on chromosome 12. Sener, E.C., Lee, B.A., Turgut, B., Akarsu, A.N., Engle, E.C. Arch. Ophthalmol. (2000) [Pubmed]
  4. A novel PHOX2A/ARIX mutation in an Iranian family with congenital fibrosis of extraocular muscles type 2 (CFEOM2). Yazdani, A., Chung, D.C., Abbaszadegan, M.R., Al-Khayer, K., Chan, W.M., Yazdani, M., Ghodsi, K., Engle, E.C., Traboulsi, E.I. Am. J. Ophthalmol. (2003) [Pubmed]
  5. Congenital abnormalities of cranial nerve development: overview, molecular mechanisms, and further evidence of heterogeneity and complexity of syndromes with congenital limitation of eye movements. Traboulsi, E.I. Transactions of the American Ophthalmological Society. (2004) [Pubmed]
  6. Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). Yamada, K., Andrews, C., Chan, W.M., McKeown, C.A., 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, R.H., Uyama, E., Houtman, W.A., de Vries, B., Carlow, T.J., Hart, B.L., Krawiecki, N., Shoffner, J., Vogel, M.C., Katowitz, J., Goldstein, S.M., Levin, A.V., Sener, E.C., Ozturk, B.T., Akarsu, A.N., Brodsky, M.C., Hanisch, F., Cruse, R.P., Zubcov, A.A., Robb, R.M., Roggenkäemper, P., Gottlob, I., Kowal, L., Battu, R., Traboulsi, E.I., Franceschini, P., Newlin, A., Demer, J.L., Engle, E.C. Nat. Genet. (2003) [Pubmed]
  7. Novel dendritic kinesin sorting identified by different process targeting of two related kinesins: KIF21A and KIF21B. Marszalek, J.R., Weiner, J.A., Farlow, S.J., Chun, J., Goldstein, L.S. J. Cell Biol. (1999) [Pubmed]
  8. Congenital fibrosis of the extraocular muscles type 2, an inherited exotropic strabismus fixus, maps to distal 11q13. Wang, S.M., Zwaan, J., Mullaney, P.B., Jabak, M.H., Al-Awad, A., Beggs, A.H., Engle, E.C. Am. J. Hum. Genet. (1998) [Pubmed]
  9. Magnetic resonance imaging evidence for widespread orbital dysinnervation in congenital fibrosis of extraocular muscles due to mutations in KIF21A. Demer, J.L., Clark, R.A., Engle, E.C. Invest. Ophthalmol. Vis. Sci. (2005) [Pubmed]
  10. KIF21A gene c.2860C>T mutation in congenital fibrosis of extraocular muscles type 1 and 3. Lin, L.K., Chien, Y.H., Wu, J.Y., Wang, A.H., Chiang, S.C., Hwu, W.L. Mol. Vis. (2005) [Pubmed]
  11. Mutation analysis of the KIF21A gene in an Indian family with CFEOM1: implication of CpG methylation for most frequent mutations. Ali, M., Venkatesh, C., Ragunath, A., Kumar, A. Ophthalmic Genet. (2004) [Pubmed]
  12. CFEOM1, the classic familial form of congenital fibrosis of the extraocular muscles, is genetically heterogeneous but does not result from mutations in ARIX. Engle, E.C., McIntosh, N., Yamada, K., Lee, B.A., Johnson, R., O'Keefe, M., Letson, R., London, A., Ballard, E., Ruttum, M., Matsumoto, N., Saito, N., Collins, M.L., Morris, L., Del Monte, M., Magli, A., de Berardinis, T. BMC Genet. (2002) [Pubmed]
  13. CFEOM3: a new extraocular congenital fibrosis syndrome that maps to 16q24.2-q24.3. Doherty, E.J., Macy, M.E., Wang, S.M., Dykeman, C.P., Melanson, M.T., Engle, E.C. Invest. Ophthalmol. Vis. Sci. (1999) [Pubmed]
  14. A Japanese family with FEOM1-linked congenital fibrosis of the extraocular muscles type 1 associated with spinal canal stenosis and refinement of the FEOM1 critical region. Uyama, E., Yamada, K., Kawano, H., Chan, W.M., Andrews, C., Yoshioka, M., Uchino, M., Engle, E.C. Neuromuscul. Disord. (2003) [Pubmed]
  15. Mutation p.Arg954Trp of KIF21A causes congenital fibrosis of the extraocular muscles in a Chinese family. Zhang, X.Q., Peng, J.H., Tang, Z.H., Xu, C.Q., Zhou, X., Gong, S.X., Liu, J.Y., Wang, Q., Liu, M.G. Yi Chuan Xue Bao (2006) [Pubmed]
  16. Phenotype-genotype correlation in two patients with 12q proximal deletion. Miyake, N., Tonoki, H., Gallego, M., Harada, N., Shimokawa, O., Yoshiura, K., Ohta, T., Kishino, T., Niikawa, N., Matsumoto, N. J. Hum. Genet. (2004) [Pubmed]
  17. Analysis of human sarcospan as a candidate gene for CFEOM1. O'Brien, K.F., Engle, E.C., Kunkel, L.M. BMC Genet. (2001) [Pubmed]
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