CENPJ

CENPJ is a protein that in humans is encoded by the CENPJ gene. It is also known as centromere protein J. CENPJ is a crucial component of the centrosome, a key organelle for cell division and duplication. Mutations in this gene are associated with Seckel syndrome, a rare autosomal recessive disorder.

Function

CENPJ is a component of the centrosome, which serves as the main microtubule organizing center (MTOC) in animal cells. The centrosome is responsible for the correct segregation of chromosomes during cell division. CENPJ is involved in the process of centrosome duplication, a crucial step in the cell cycle. It is also required for the formation of cilia, tiny hair-like structures that play a key role in cell movement and signaling.

Clinical significance

Mutations in the CENPJ gene are associated with Seckel syndrome, a rare autosomal recessive disorder characterized by growth retardation, microcephaly, and a bird-like face. Mutations in this gene can also cause primary microcephaly, a condition characterized by a significantly smaller head size due to reduced brain growth.

See also

• Centrosome
• Seckel syndrome
• Microcephaly

References

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External links

• NCBI Gene
• UniProt

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