Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

Kinesin-like Protein KIF11

Das KIF11-Gen kodiert ein Motorprotein, welches in die Spindeldynamik eingebunden ist. Mutationen verursachen das autosomal dominante Mikrocephalie-Lymphödem-Chorioretinopathie-Syndrom.

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Mikrocephalie-Lymphödem-Chorioretinopathie-Syndrom
KIF11

Referenzen:

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
Update: 14. August 2020
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