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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 mental retardation.
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Protein Aliases: CENP-J; Centromere protein J; Centrosomal P4.1-associated protein; LAG-3-associated protein; LYST-interacting protein 1; LYST-interacting protein LIP1; LYST-interacting protein LIP7; microcephaly
Gene Aliases: 4932437H03Rik; BM032; CENP-J; CENPJ; CPAP; Gm81; LAP; LIP1; MCPH6; Sas-4; Sas4; SASS4; SCKL4
UniProt ID: (Human) Q9HC77, (Mouse) Q569L8
Entrez Gene ID: (Human) 55835, (Rat) 305909, (Mouse) 219103
Molecular Function:
receptor
transferase
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