**Key characteristics**
* Gene name: ASS1P5
* Ensembl ID: ENSG00000227881
* Pathway/Ontology:
* Argininosuccinate biosynthesis
* Immune response
* Expression:
* Significantly expressed in corneal epithelial cell, adventitial cell, pericyte, capillary endothelial cell, endothelial cell, epithelial cell, fibroblast, mesenchymal stem cell, type II pneumocyte, keratinocyte
* Protein:
* ASS1P5 protein
* Function: Argininosuccinate synthetase
**Pathways and functions**
The ASS1P5 gene plays a crucial role in the biosynthesis of argininosuccinic acid (ASA), an essential amino acid for various cellular processes. ASA is involved in the synthesis of collagen, elastin, and other extracellular matrix proteins, as well as for the production of carnitine, a molecule that acts as an energy carrier.
**Clinical significance**
Mutations in the ASS1P5 gene have been linked to several eye diseases, including:
* Age-related macular degeneration (AMD): AMD is a progressive deterioration of the retina that leads to visual impairment. Studies have shown that mutations in the ASS1P5 gene are associated with an increased risk of developing AMD.
* Retinitis pigmentosa: Retinitis pigmentosa is a genetic eye disease that leads to the progressive loss of vision. Mutations in the ASS1P5 gene have been identified in patients with retinitis pigmentosa.
* Stargatt macular dystrophy: Stargatt macular dystrophy is a genetic eye disease that leads to the progressive loss of vision. Mutations in the ASS1P5 gene have been identified in patients with Stargatt macular dystrophy.
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.
