Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Kinesin-like protein KIF11

The KIF11 gene encodes a motor protein involved in spindle dynamics. Mutations cause autosomal dominant microcephaly-lymphedema-chorioretinopathy syndrome.

Genetests:

Clinic Method Carrier testing
Turnaround 5
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25
Specimen type genomic DNA

Related Diseases:

Microcephaly-lymphedema-chorioretinopathy syndrome
KIF11

References:

1.

Justice MJ et al. (1992) A molecular genetic linkage map of mouse chromosome 18 reveals extensive linkage conservation with human chromosomes 5 and 18.

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2.

Tihy F et. al. (1992) Localization of the human kinesin-related gene to band 10q24 by fluorescence in situ hybridization.

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3.

Stewart RJ et. al. (1991) Identification and partial characterization of six members of the kinesin superfamily in Drosophila.

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4.

Blangy A et. al. (1995) Phosphorylation by p34cdc2 regulates spindle association of human Eg5, a kinesin-related motor essential for bipolar spindle formation in vivo.

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5.

Lawrence CJ et. al. (2004) A standardized kinesin nomenclature.

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6.

Kapitein LC et. al. (2005) The bipolar mitotic kinesin Eg5 moves on both microtubules that it crosslinks.

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7.

Vasudevan PC et. al. (2005) Microcephaly-lymphoedema-chorioretinal dysplasia: three cases to delineate the facial phenotype and review of the literature.

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8.

Chauvière M et. al. (2008) Disruption of the mitotic kinesin Eg5 gene (Knsl1) results in early embryonic lethality.

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9.

Bartoli KM et. al. (2011) Kinesin molecular motor Eg5 functions during polypeptide synthesis.

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10.

Ostergaard P et. al. (2012) Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy.

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11.

Mirzaa GM et. al. (2014) Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature.

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12.

Robitaille JM et. al. (2014) Phenotypic overlap between familial exudative vitreoretinopathy and microcephaly, lymphedema, and chorioretinal dysplasia caused by KIF11 mutations.

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Update: Sept. 26, 2018