Anti-AIPL1 antibody

Supplementary info

This supplementary information is collated from multiple sources and compiled automatically.

Activity summary

AIPL1 also known as aryl hydrocarbon receptor-interacting protein-like 1 is a protein that plays an important mechanical role in the cellular environment. It has a molecular mass of approximately 42 kDa. AIPL1 is expressed mainly in the retina further appearing in photoreceptor cells where its function becomes important for proper cell operation. This protein interacts with other molecular structures directly affecting processes essential to cellular function.

Biological function summary

AIPL1 assists in maintaining the stability and proper folding of photoreceptor PDE6 a cyclic GMP phosphodiesterase an important component of the phototransduction complex. It acts as a chaperone ensuring that PDE6 which is critical for visual processes stays correctly assembled and functional. Its role in this complex highlights its involvement in the health of photoreceptor cells and indirectly supports the conversion of light into neural signals within the eye.

Pathways

AIPL1 participates significantly within the phototransduction pathway. This is a vital pathway required for vision where it directly influences the regulation of PDE6 activity. AIPL1's association with PDE6 links it to further elements like the guanylate cyclase pathway important for replenishing cGMP levels post-phototransduction. Interactions with proteins such as chaperonin-containing TCP-1 (CCT) highlight its role in the folding and proper functioning of phototransduction components.

Associated diseases and disorders

Mutations in AIPL1 are associated with Leber congenital amaurosis (LCA) a severe inherited retinal dystrophy that leads to blindness or severe vision impairment from a young age. The loss of function or malfunction of AIPL1 affects PDE6 leading to the buildup of misfolded proteins which impairs photoreceptor cell survival and function. Additionally study of similar AIPL1 mutations sheds light on a subset of retinitis pigmentosa linking abnormalities within this protein to progressive vision disorders.