Humpath.com - Human pathology

Home > A. Molecular pathology > KIF11

KIF11

10q24.1 HGNC:6388 MIM.148760

Monday 6 February 2012

kinesin family membeKinesin-5r 11; "kinesin-like 1", KNSL1; Eg5, HKSP, TRIP5

WKP

Definition : KIF11 is a molecular motor protein that is essential in mitosis. KIF11 proteins are members of kinesin superfamily, which are nanomotors that move along microtubule tracks in the cell. Named from studies in the early days of discovery, it is also known as kinesin family member 11, encoded by the KIF11 gene, or as BimC, Eg5 or N-2, based on the founding members of this kinesin family.

Pathology

- Germline Mutations in KIF11 Cause Autosomal-Dominant Microcephaly Variably Associated with Congenital Lymphedema and Chorioretinopathy. (22284827)

- High kinesin family member 11 expression predicts poor prognosis in patients with clear cell renal cell carcinoma.

See also

- KIFs

References

- Mutations in KIF11 Cause Autosomal-Dominant Microcephaly Variably Associated with Congenital Lymphedema and Chorioretinopathy. Ostergaard P, Simpson MA, Mendola A, Vasudevan P, Connell FC, van Impel A, Moore AT, Loeys BL, Ghalamkarpour A, Onoufriadis A, Martinez-Corral I, Devery S, Leroy JG, van Laer L, Singer A, Bialer MG, McEntagart M, Quarrell O, Brice G, Trembath RC, Schulte-Merker S, Makinen T, Vikkula M, Mortimer PS, Mansour S, Jeffery S. Am J Hum Genet. 2012 Jan 24. PMID: 22284827