KIF21A

KIF21A

A gene on chromosome 12q12 that encodes a member of the KIF4 subfamily of kinesin-like motor proteins that has an N-terminal motor domain, a coiled-coil stalk domain and a C-terminal WD-40 repeat domain. KIF21A may be involved in microtubule-dependent and in axonal transport.

Molecular pathology
KIF21A mutations cause congenital fibrosis of extraocular muscles-1.
References in periodicals archive ?
However, a mutation in the KIF21A gene, which was identified in congenital fibrosis of extraocular muscles type 1, has been reported in cases of MS accompanied by additional eye movement disorder (3).
A congenital cranial dysinnervation disorder: Mobius' syndrome
Sinir hucrelerinde anterograd organel akimi ile iliskili motor proteinini kodlayan KIF21A (KInesin Family 21 A) geninde farkli missense (yanlis anlamli) mutasyonlar saptanmistir.
En az iki gende heterozigot mutasyonlar tespit edilmistir: TUBB3 (KEOKF 3A) ve KIF21A geni (KEOKF 3B).
Magnetic resonance imaging evidence for widespread orbital dysinnervation in congenital fibrosis of extraocular muscles due to mutations in KIF21A.
A novel KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and Marcus Gunn jaw-winking phenomenon.
Wang P, Li S, Xiao X, Guo X, Zhang Q, KIF21A novel deletion and recurrent mutation in patients with congenital fibrosis of the extraocular muscles-1.
Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1).
Novel and recurrent KIF21A mutations in congenital fibrosis of the extraocular muscles type 1 and 3.
Three novel mutations in KIF21A highlight the importance of the third coiled-c oil stalk domain in the etiology of CFEOM1.
Congenital fibrosis of the extraocular muscles/Konjenital ekstraokuler kas fibrozisi
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