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Gene : CENPJ Homo sapiens

Name  ? centromere protein J Cytological Location  13q12.12-q12.13
Brief Description  centromere protein J
Description  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]
  • synonyms:
  • Seckel syndrome 4,
  • microcephaly, primary autosomal recessive 6,
  • SCKL4,
  • LAG-3-associated protein,
  • Sas-4,
  • BM032,
  • CENPJ,
  • NM_018451,
  • LIP1,
  • LAP,
  • MCPH6,
  • SASS4,
  • CENP-J,
  • HGNC:17272,
  • LIP1,
  • centrosomal P4.1-associated protein,
  • uc001upt.6,
  • SASS4,
  • CPAP,
  • MCPH6,
  • AF139625,
  • SCKL4,
  • Sas-4,
  • LAP,
  • BM032,
  • Spindle assembly abnormal 4,
  • OTTHUMG00000016595,
  • CPAP
  • identifiers:
  • 55835,
  • ENSG00000151849,
  • CENPJ

Genome feature

Region: gene ? Length: 40611  
Location: 13:24882279-24922889 reverse strand Cyto location: 13q12.12-q12.13


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Disease

2 Diseases

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3740 SNPs

5 Cross References

17 Data Sets

4 Homologues

0 Located Features

97 Rna Seq Results