**Key characteristics**
* The CEACAMP1 gene is located on chromosome 13q13.1.
* It is a large gene, with a length of approximately 12.3 kb.
* The protein product of the CEACAMP1 gene is a transmembrane protein with a molecular weight of approximately 140 kDa.
* The CEACAMP1 gene is expressed in a variety of cell types, including retinal rod cells, oligodendrocyte precursor cells, retinal pigment epithelial cells, ependymal cells, astrocytes, pigmented ciliary epithelial cells, ON retinal ganglion cells, OFF retinal ganglion cells, and cerebellar granule cell precursors.
**Pathways and functions**
The CEACAMP1 gene is thought to be involved in the regulation of retinal development and function through a variety of pathways. These pathways include:
* **Cell adhesion:** The CEACAMP1 gene is expressed in cells that are involved in cell adhesion, such as retinal rod cells and oligodendrocyte precursor cells. It is thought to be involved in the adhesion of these cells to each other and to the extracellular matrix.
* **Growth factor signaling:** The CEACAMP1 gene is also expressed in cells that are involved in growth factor signaling, such as retinal pigment epithelial cells and astrocytes. It is thought to be involved in the regulation of cell growth and migration.
* **Neurotransmitter release:** The CEACAMP1 gene is expressed in cells that are involved in neurotransmitter release, such as ON and OFF retinal ganglion cells. It is thought to be involved in the release of neurotransmitters from these cells.
**Clinical significance**
Mutations in the CEACAMP1 gene have been linked to a number of eye diseases, including retinitis pigmentosa, macular dystrophy, and glaucoma. These diseases are characterized by the loss of vision, and it is thought that mutations in the CEACAMP1 gene may be responsible for this loss of vision. Further research is needed to confirm the role of the CEACAMP1 gene in eye diseases, and to develop treatments 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.
