**Key characteristics:**
* The gene is 12.6 kb long.
* It encodes a protein of 310 amino acids.
* It is expressed in a variety of cell types, including lens fiber cells, secondary lens fiber cells, ependymal cells, astrocytes, fibroblasts, lens epithelial cells, plasma cells, endothelial cells, oligodendrocyte precursor cells, and anterior lens cells.
**Pathways and functions:**
The ALDH7A1P2 gene is involved in the metabolism of aldehydes. Aldehydes are produced by a variety of cellular processes, including the metabolism of fatty acids, cholesterol, and amino acids. They can also be produced by the breakdown of damaged tissue. ALDH7A1P2 protein is a key enzyme in the metabolism of aldehydes. It catalyzes the conversion of aldehydes to other molecules, including acetate. This process is important for maintaining the homeostasis of the body and for preventing the accumulation of toxic aldehydes.
**Clinical significance:**
Mutations in the ALDH7A1P2 gene have been linked to a number of eye diseases, including cataracts, glaucoma, and macular degeneration. These diseases are caused by the accumulation of aldehydes in the eyes, which can damage the lens and lead to vision loss.
The ALDH7A1P2 gene is a promising target for the treatment of eye diseases. By inhibiting the activity of ALDH7A1P2, it may be possible to reduce the accumulation of aldehydes in the eyes and prevent the development of eye 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.
