RTEL1 Rabbit Polyclonal Antibody
Specifications
| Product Data | |
| Application | ICC/IF, IP, WB |
|---|---|
| Recommended Dilution | Immunocytochemistry/ Immunofluorescence: 1:250 - 1:500, Immunoprecipitation, Western Blot: 1:5000 - 1:10000 |
| Reactivity | Human, Mouse |
| Antibody Host | Rabbit |
| Clonality | Polyclonal |
| Immunogen | A genomic peptide made to an internal region of the human RTEL1 protein (within residues 800-1000). Swiss-Prot Q9NZ71 |
| Buffer | PBS, 0.05% Sodium Azide. Store at 4C short term. Aliquot and store at -20C long term. Avoid freeze-thaw cycles. |
| Concentration | lot specific |
| Purification | Immunogen affinity purified |
| Conjugation | Unconjugated |
| Storage | Store at -20°C as received. |
| Stability | Stable for 12 months from date of receipt. |
| Shipping | Blue Ice |
| Gene Name | regulator of telomere elongation helicase 1 |
| Database Link | |
| Background | RTEL1 (Regulator of Telomere Length 1) is a nuclear iron-sulfur cluster containing ATP-dependent DNA helicase essential to genomic stability. RTEL1 contains 1 helicase ATP-binding domain and it belongs to helicase family, RAD3/XPD subfamily. Originally discovered in mouse, RTEL1 is a dominant factor controlling the regulation of telomeric length and genomic integrity, and recent evidence suggest that RTEL1 is preferentially recruited to, or exerts greater activity at genome's G-rich regions. In DNA double-strand breaks (DSBs) repair, RTEL1 disrupts D-loops in vitro and promotes synthesis-dependent strand annealing (SDSA) in vivo to direct DNA DSBs into non-crossover outcomes during mitotic repair. RTEL1 activity is also essential to meiotic recombination regulation as shown in C elegans. RTEL1's multiple roles in genomic stability maintenance and recombination regulation suggests it as a tumor suppressor. Indeed, RTEL1 mutation represents a risk factor for glioma and it is overexpressed in gastrointestinal cancers. Human RTEL1 deficiency caused Hoyeraal-Hreidarsson syndrome (HHS), a severe variant of Dyskeratosis Congenita (DC), characterized by early onset bone marrow failure, immunodeficiency and developmental defects. |
| Synonyms | C20orf41; DKCA4; DKCB5; NHL; PFBMFT3; RTEL |
| Note | In Immunohistochemistry and ICC/IF nuclear staining was observed. Formulin fixation is recommended for ICC/IF. |
| Reference Data | |
| Protein Categories | Cardiovascular diseases, Intracellular Proteins |
| Protein Families | Druggable Genome |
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