KIF21A

(redirected from CFEOM1)

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 ?
The first time, Yamada et al reported mutations in the KIF21A in 45 patients with CFEOM1 phenotype (8).
Mutational analysis of KIF21A in CFEOM1 confirmed 13 different mis-sense mutations (c.84C>G, c.!056C->G, C.1067T>C, c.2830G>C, c.2839A>G, c.2840T>G, c.2840T>C, c.2841G>A, C.2860OT, c.2861G>A, c.2861G>T, c.3022G>C, c.3029T>C) and a deletion c.3000_3002deITGA (p.Asp 1001 del) at codon 1001 (14,15).
Chan et al genotyped a pedigree with CFEOM1 phenotype from Iran which they did not find any known variant (ls).
A clinically variant fibrosis syndrome in a Turkish family maps to the CFEOM1 locus on chromosome 12.
Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1).
Three novel mutations in KIF21A highlight the importance of the third coiled-c oil stalk domain in the etiology of CFEOM1. BMC Genet.