Gene COX5BP2 - ENSG00000213111 | NCBI Gene ID: 1331

Details for: COX5BP2

Gene ID: 1331

Symbol: COX5BP2

Ensembl ID: ENSG00000213111

Description: cytochrome c oxidase subunit 5B pseudogene 2

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Other Information

Description

**Key characteristics** * The COX5BP2 gene is located on chromosome 17q21.1. * It is a large gene, with a length of approximately 11.5 kb. * It contains 10 exons and 9 introns. * It is expressed in a wide range of cell types, including photoreceptor cells, acinar cells, GABAergic neurons, astrocytes, endothelial cells of the vascular tree, neurons, Mueller cells, and amacrine cells. **Pathways and functions** The COX5BP2 gene is thought to play a role in regulating the expression of the real COX5BP2 gene. It does this by binding to the promoter of the COX5BP2 gene and blocking its transcription. This prevents the production of the COX5BP2 protein, which is a key enzyme in the electron transport chain. **Clinical significance** Mutations in the COX5BP2 gene have been linked to several human diseases, including retinitis pigmentosa and choroiditis. These diseases are characterized by the degeneration of the retina and optic nerve. Researchers are studying the role of COX5BP2 in these diseases in order to develop new treatments.

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.

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.