Abcam, ab79039, Anti-AIPL1 antibody

Size: 100µg
Rabbit Polyclonal AIPL1 antibody. Suitable for WB, IHC-P, ICC/IF and reacts with Human samples. Cited in 2 publications. Immunogen corresponding to Synthetic Peptide within Human AIPL1.
Key facts
Host species:Rabbit,
Clonality:Polyclonal,
Isotype:IgG,
Carrier free:No,
Reacts with:Human,
Applications:WB, IHC-P, ICC/IFSee reactivity dataSee the reactivity data table below for information on validated species and application combinations.,
Immunogen:Synthetic Peptide within Human AIPL1. The exact immunogen used to generate this antibody is proprietary information.Q9NZN9

Properties and Storage Information:
Form-Liquid, Purification technique-Affinity purification Immunogen, Purification notes-ab79039 was purified by affinity chromatography via a peptide column, Storage buffer-pH: 7.2Preservative: 0.02% Sodium azideConstituents: PBS, Shipped at conditions-Blue Ice, Appropriate short-term storage conditions-+4°C, Appropriate long-term storage conditions-+4°C

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