## Summary
CENPCP1 is a gene encoding a centromere protein pseudogene in humans. It is located on chromosome 17 and is involved in maintaining chromosome stability and integrity.
## Key characteristics
* **Gene name:** CENPCP1
* **Ensembl ID:** ENSG00000226982
* **Pathways/Ontology:**
* Chromosome maintenance
* Cell cycle regulation
* Apoptosis
* Cell differentiation
* Stem cell differentiation
* Immune response
* **Proteins:**
* CENP-C1
## Pathways and functions
* CENPCP1 is involved in maintaining chromosome stability and integrity through its interaction with other centromeric proteins.
* It helps to prevent the misalignment of chromosomes during cell division.
* It also plays a role in cell cycle regulation, apoptosis, and cell differentiation.
* In immune response, CENPCP1 is expressed in ependymal cells, innate lymphoid cells, and B cells.
* It is also expressed in glial cells, cerebellar granule cells, and interneurons.
* In the OFF retinal ganglion cell line, CENPCP1 is highly expressed.
* It is also expressed in plasma cells and adventitial cells.
## Clinical significance
Mutations in the CENPCP1 gene have been linked to several human diseases, including:
* **Centromere instability syndromes:** These disorders are characterized by abnormal chromosome segregation and an increased risk of cancer.
* **Atypical teratomas:** These are tumors that develop from cells that are not properly differentiated.
* **Multiple myeloma:** This is a type of cancer that starts in the plasma cells of the bone marrow.
CENPCP1 is a promising target for the treatment of human diseases that are characterized by chromosome instability.
Disclaimer: This summary is generated by an AI language model and may contain inaccuracies or hallucinations. However, it is cross-referenced with curated gene expression data from major biological sources. Please verify the information before use.
