Tämä Kelch-superperheen jäsen suojelee mitoottisilta virheiltä, sentrosomien amplifikaatioilta ja kromosomaaliselta epävakaudelta (2012). Tämän KLHDC8B:n mutaatio assosioituu Hodginin lymfoomaan ja siinä tavattaviin binukleaarisiin Reed-Stenberg-soluihin.
Entrez Gene Summary for KLHDC8B Gene
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This gene encodes a protein which forms a
distinct beta-propeller protein structure of kelch domains allowing for
protein-protein interactions. Mutations in this gene have been
associated with Hodgkin lymphoma. [provided by RefSeq, Sep 2010]
GeneCards Summary for KLHDC8B Gene
KLHDC8B (Kelch Domain Containing 8B) is a Protein Coding gene.
Diseases associated with KLHDC8B include Lymphoma, Hodgkin, Classic and Hodgkin's Lymphoma, Nodular Sclerosis.
An important paralog of this gene is KLHDC8A.
UniProtKB/Swiss-Prot Summary for KLHDC8B Gene
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Involved in pinching off the separated nuclei at the cleavage furrow and in cytokinesis (PubMed:20107318). Required for mitotic integrity and maintenance of chromosomal stability. Protects cells against mitotic errors, centrosomal amplification, micronucleus formation and aneuploidy. Plays a key role of midbody function involving abscission of the daughter cells during cytokinesis and appropriate chromosomal and nuclear segregation into the daughter cells (PubMed:22988245, PubMed:23713010).
