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Center for Nephrology and Metabolic Disorders
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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 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Microcephaly-lymphedema-chorioretinopathy syndrome
KIF11

References:

1.

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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2.

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

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3.

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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4.

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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5.

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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6.

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

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7.

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

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8.

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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9.

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

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10.

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

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11.

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

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12.

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

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13.

NCBI article

NCBI 3832 external link
14.

OMIM.ORG article

Omim 148760 external link
15.

Orphanet article

Orphanet ID 292401 external link
16.

Wikipedia article

Wikipedia EN (Kinesin_family_member_11) external link
Update: Aug. 14, 2020
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