Gene: CENPU

Alternate names for this Gene: CENP50|CENPU50|KLIP1|MLF1IP|PBIP1

Gene Summary: The centromere is a specialized chromatin domain, present throughout the cell cycle, that acts as a platform on which the transient assembly of the kinetochore occurs during mitosis. All active centromeres are characterized by the presence of long arrays of nucleosomes in which CENPA (MIM 117139) replaces histone H3 (see MIM 601128). MLF1IP, or CENPU, is an additional factor required for centromere assembly (Foltz et al., 2006 [PubMed 16622419]).[supplied by OMIM, Mar 2008].

Gene is located in Chromosome: 4

Location in Chromosome : 4q35.1

Description of this Gene: centromere protein U

Type of Gene: protein-coding

rs7683537 in CENPU gene and Lupus Erythematosus, Systemic PMID 19838195 2009 A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus.

rs2130392 in CENPU gene and Mucocutaneous Lymph Node Syndrome PMID 22446962 2012 A genome-wide association study identifies three new risk loci for Kawasaki disease.