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Kinesin family member 21A

KIF21A, CFEOM1, FEOM1
This gene encodes a member of the KIF4 subfamily of kinesin-like motor proteins. The encoded protein is characterized by an N-terminal motor domain a coiled-coil stalk domain and a C-terminal WD-40 repeat domain. This protein may be involved in microtubule dependent transport. Mutations in this gene are the cause of congenital fibrosis of extraocular muscles-1. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2010] (from NCBI)
Top mentioned proteins: HAD, Strabismus, CAN, beta-4, SALL4
Papers on KIF21A
CCDD Phenotype Associated with a Small Chromosome 2 Deletion.
New
Khan et al., Riyadh, Saudi Arabia. In Semin Ophthalmol, Dec 2015
No mutations were detected in the HOXA1, KIF21A, SALL4, TUBB3, and CHN1 genes.
A rare case of congenital fibrosis of extraocular muscle type 1A due to KIF21A mutation with Marcus Gunn jaw-winking phenomenon.
New
Çağlayan et al., Kayseri, Turkey. In Eur J Paediatr Neurol, Nov 2015
METHODS AND RESULTS: In this report we describe a 5-year-old boy, and his mother, both of whom have a mutation in the KIF21A gene, who possesses typical features of CFEOM1 syndrome.
Kinesin superfamily proteins and the regulation of microtubule dynamics in morphogenesis.
Review
Niwa, Stanford, United States. In Anat Sci Int, 2015
KIF21A and KIF26A work as microtubule stabilizers that regulate axonal morphology.
Strabismus surgery in congenital fibrosis of the extraocular muscles: a paradigm.
Sanaç et al., In Ophthalmic Genet, 2014
BACKGROUND: Congenital fibrosis of extraocular muscles (CFEOM) is a rare group of disorders with variable phenotypes that result from aberrant innervation to the EOMs leading to synergistic vertical and/or horizontal deviations.
Brain Abnormalities in Congenital Fibrosis of the Extraocular Muscles Type 1: A Multimodal MRI Imaging Study.
Jiao et al., Beijing, China. In Plos One, 2014
PURPOSE: To explore the possible brain structural and functional alterations in congenital fibrosis of extraocular muscles type 1 (CFEOM1) patients using multimodal MRI imaging.
The ECEL1-related strabismus phenotype is consistent with congenital cranial dysinnervation disorder.
Alkuraya et al., Riyadh, Saudi Arabia. In J Aapos, 2014
CCDDs have been associated with dominant or recessive monogenic mutations in at least 7 different genes (CHN1, SALL4, HOXA1, KIF21A, PHOX2A, TUBB3, ROBO3) that cause phenotypes such as Duane retraction syndrome, congenital fibrosis of the extraocular muscles, and horizontal gaze palsy with progressive scoliosis.
Human CFEOM1 mutations attenuate KIF21A autoinhibition and cause oculomotor axon stalling.
Engle et al., Boston, United States. In Neuron, 2014
The ocular motility disorder "Congenital fibrosis of the extraocular muscles type 1" (CFEOM1) results from heterozygous mutations altering the motor and third coiled-coil stalk of the anterograde kinesin, KIF21A.
Maternal germline mosaicism of kinesin family member 21A (KIF21A) mutation causes complex phenotypes in a Chinese family with congenital fibrosis of the extraocular muscles.
Zhao et al., Beijing, China. In Mol Vis, 2013
PURPOSE: To identify the causative mutation with its possible origin in a Chinese family with congenital fibrosis of extraocular muscles type 1 (CFEOM1) and to characterize the ocular phenotypes and lesions in the corresponding intracranial nerves.
A novel de novo KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and Möbius syndrome.
Mootha et al., Dallas, United States. In Mol Vis, 2013
PURPOSE: To describe the phenotypic characteristics and clinical course of a sporadic case of congenital fibrosis of the extraocular muscles (CFEOM) and Möbius syndrome with a de novo mutation in the KIF21A gene encoding a kinesin motor protein.
Spatiotemporal expression pattern of KIF21A during normal embryonic development and in congenital fibrosis of the extraocular muscles type 1 (CFEOM1).
GeneRIF
Engle et al., Boston, United States. In Gene Expr Patterns, 2012
The diffuse and widespread expression of KIF21A in the developing human and mouse central and peripheral nervous system as well as in extraocular muscle does not account for the restricted ocular phenotype observed in Congenital fibrosis of the extraocular muscles type 1.
KIF21A-mediated axonal transport and selective endocytosis underlie the polarized targeting of NCKX2.
GeneRIF
Lee et al., Seoul, South Korea. In J Neurosci, 2012
This study indicated that KIF21A-mediated axonal transport and selective somatodendritic endocytosis underlie the axonal polarized surface expression of NCKX2.
KIF21A novel deletion and recurrent mutation in patients with congenital fibrosis of the extraocular muscles-1.
GeneRIF
Zhang et al., Guangzhou, China. In Int J Mol Med, 2011
KIF21A novel deletion and recurrent mutation have been fonund in Chinese patients with congenital fibrosis of the extraocular muscles-1.
Gene expression profiling and qRT-PCR expression of RRP1B, PCNT, KIF21A and ADRB2 in leucocytes of Down's syndrome subjects.
GeneRIF
Bosco et al., Italy. In J Genet, 2011
Expression of RRP1B, PCNT, KIF21A and ADRB2 in leucocytes of Down's syndrome subjects, was analyzed.
[Mutation analysis of KIF21A gene in a Chinese family with congenital fibrosis of the extraocular muscles type I].
GeneRIF
Jiao et al., China. In Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2011
This Chinese family with congenital fibrosis of the extraocular muscles type I(CFEOM1) may be caused by a c.2860C to T mutation in the KIF21A gene.
Congenital fibrosis of the extraocular muscles.
Review
Hunter et al., Boston, United States. In Semin Ophthalmol, 2008
Three clinical phenotypes for familial CFEOM (CFEOM1, 2, and 3) have been delineated, for which two genes have been identified to date: KIF21A for CFEOM1 and 3 and PHOX2A/ARIX for CFEOM2.
The genetic basis of complex strabismus.
Review
Engle, Boston, United States. In Pediatr Res, 2006
We are discovering that these disorders result from mutations in genes necessary for the normal development and connectivity of brainstem ocular motoneurons, including PHOX2A, SALL4, KIF21A, ROBO3, and HOXA1, and we now refer to these syndromes as the "congenital cranial dysinnervation disorders," or CCDD.
A novel KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and Marcus Gunn jaw-winking phenomenon.
Review
GeneRIF
Engle et al., Boston, United States. In Arch Ophthalmol, 2005
This report introduces a new CFEOM1 (congenital fibrosis of the extraocular muscles) KIF21A mutation and is, to our knowledge, the first report of a genetic defect associated with Marcus Gunn jaw-winking.
Congenital Fibrosis of the Extraocular Muscles
Review
Engle et al., Seattle, United States. In Unknown Journal, 2004
Three CFEOM ophthalmic phenotypes are recognized: CFEOM1, CFEOM2, and CFEOM3.
Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1).
Impact
GeneRIF
Engle et al., Boston, United States. In Nat Genet, 2003
Heterozygous mutations of the kinesin KIF21A is associated with congenital fibrosis of the extraocular muscles type 1
Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2.
Impact
Engle et al., Boston, United States. In Nat Genet, 2001
The congenital fibrosis syndromes (CFS) represent a subset of monogenic isolated strabismic disorders that are characterized by restrictive ophthalmoplegia, and include congenital fibrosis of the extraocular muscles (CFEOM) and Duane syndrome (DURS).
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