**Key characteristics:**
- It is a pseudogene, meaning it is a gene that has been disrupted and does not encode a functional protein.
- It is expressed in a variety of cell types, including pigmented ciliary epithelial cell, retinal rod cell, astrocyte, ON retinal ganglion cell, smooth muscle cell of sphincter of pupil, melanocyte, central nervous system macrophage, non-pigmented ciliary epithelial cell, retinal pigment epithelial cell, and ependymal cell.
- The protein encoded by CA5AP1 is a transmembrane protein that is expressed in the cell membrane.
- It is a pseudogene, meaning it does not encode a functional protein.
**Pathways and functions:**
- The protein encoded by CA5AP1 is involved in the regulation of the blood-aqueous barrier.
- It is expressed in the ciliary epithelial cells of the eye, which are responsible for maintaining the integrity of the blood-aqueous barrier.
- It is also expressed in the retinal pigment epithelial cells, which are responsible for producing the pigment that gives the eyes its color.
- It is also expressed in the ON retinal ganglion cell, which is responsible for transmitting visual information from the eye to the brain.
**Clinical significance:**
- Mutations in the CA5AP1 gene have been linked to the development of several eye diseases, including retinitis pigmentosa and age-related macular degeneration.
- These diseases are characterized by the loss of vision due to damage to the retina.
- Targeting CA5AP1 could be a potential therapeutic strategy for these diseases.
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.
