RTEL1 Rabbit Polyclonal Antibody

Specifications

Product Data
Applications	ICC/IF, IP, WB
Recommend Dilution	Immunocytochemistry/ Immunofluorescence: 1:250 - 1:500, Immunoprecipitation, Western Blot: 1:5000 - 1:10000
Reactivity	Human, Mouse
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]
Formulation	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 Condition	Store at -20°C as received.
Gene Name	regulator of telomere elongation helicase 1
Database Link	NP_116575 Entrez Gene 269400 MouseEntrez Gene 51750 Human UniProt ID Q9NZ71
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 Families	Druggable Genome

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