Abcam, ab222837, Anti-OFD1 antibody

Size: 50µL
Rabbit Polyclonal OFD1 antibody. Suitable for WB, IHC-P, ICC/IF and reacts with Human samples. Cited in 8 publications. Immunogen corresponding to Recombinant Fragment Protein within Human OFD1 aa 550-800.
Key facts
Host species:Rabbit,
Clonality:Polyclonal,
Isotype:IgG,
Carrier free:No,
Reacts with:Human,
Applications:IHC-P, ICC/IF, WBSee reactivity dataSee the reactivity data table below for information on validated species and application combinations.,
Immunogen:Recombinant Fragment Protein within Human OFD1 aa 550-800. The exact immunogen used to generate this antibody is proprietary information.O75665

Properties and Storage Information:
Form-Liquid, Purification technique-Affinity purification Protein G, Purification notes->95%, Storage buffer-pH: 7.4 Preservative: 0.03% Proclin 300 Constituents: PBS, 50% Glycerol (glycerin, glycerine), Shipped at conditions-Blue Ice, Appropriate short-term storage duration-1-2 weeks, Appropriate short-term storage conditions-+4°C, Appropriate long-term storage conditions--20°C, Aliquoting information-Upon delivery aliquot, Storage information-Avoid freeze / thaw cycle

Supplementary Information:
This supplementary information is collated from multiple sources and compiled automatically.
The OFD1 protein also known as Oral-Facial-Digital Syndrome 1 protein has an important mechanical function in the formation of centrioles and basal bodies important for ciliary development and function. This protein weighs approximately 123 kDa and is found prominently in tissues with motile and non-motile cilia including the brain kidneys and lungs. OFD1 is expressed in both embryonic and adult tissues indicating its role across developmental stages.
Biological function summary
The OFD1 protein is a critical part of the centrosome and cilia structure. It is prominently involved in the centrosome-cilium interface ensuring proper structure and function of cilia which are essential for cell signaling and movement. OFD1 interacts with proteins like CEP290 and BBS4 within the basal body and centriolar satellites indicating its participation in maintaining ciliary architecture and function.
Pathways
The OFD1 protein is involved in pathways that influence cilia-related signaling. One significant pathway includes the Hedgehog signaling pathway which relies on cilia for signal transduction. Proteins such as Gli and Smoothened which play roles within these pathways interact with ciliary structures supported by OFD1 highlighting its involvement in signaling required for tissue development and morphogenesis.
Disruption in OFD1 function relates to oral-facial-digital syndrome type 1 and Joubert syndrome both of which are ciliopathies. These disorders arise due to defects in cilia leading to problems in multiple organ systems including the nervous system and kidneys. OFD1's interactions with CEP290 become critical in the context of these diseases as defects in these protein interactions can cause the ciliopathies' phenotypes explaining the mutations' contributions to clinical conditions.