Gene Symbol | CENPJ |
Entrez Gene ID | 55835 |
Full Name | centromere protein J |
Synonyms | BM032,CENP-J,CPAP,LAP,LIP1,MCPH6,SASS4,SCKL4,Sas-4 |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a protein that belongs to the centromere protein family. During cell division, this protein plays a structural role in the maintenance of centrosome integrity and normal spindle morphology, and it is involved in microtubule disassembly at the centrosome. This protein can function as a transcriptional coactivator in the Stat5 signaling pathway, and also as a coactivator of NF-kappaB-mediated transcription, likely via its interaction with the coactivator p300/CREB-binding protein. Mutations in this gene are associated with primary autosomal recessive microcephaly, a disorder characterized by severely reduced brain size and cognitive disability. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2012]. |
Disorder MIM: | |
Disorder Html: | Microcephaly 6, primary, autosomal recessive, 608393 (3); ?Seckel syndrome 4, 613676 (3) |