Anti-RTEL1 Antibody Picoband® fluoro594 Vervoeging

The RTEL1 gene encodes a DNA helicase which functions in the stability, protection and elongation of telomeres and interacts with proteins in the shelterin complex known to protect telomeres during DNA replication. Mutations in this gene have been associated with dyskeratosis congenita and Hoyerall-Hreidarsson syndrome. Read-through transcription of this gene into the neighboring downstream gene, which encodes tumor necrosis factor receptor superfamily, member 6b, generates a non-coding transcript. Alternative splicing results in multiple transcript variants encoding different isoforms.

Regulator of telomere elongation helicase 1

RTEL1

51750

Q9NZ71

Human, Mouse, Rat

No cross-reactivity with other proteins.

E.coli-derived human RTEL1 recombinant protein (Position: D98-K1173) .

Most abundant in heart, brain, liver, skeletal muscle and testis but absent in thymus and peripheral blood leukocytes.

Flow Cytometry

Chromosome Structure, Epigenetics and Nuclear Signaling

Immunogen affinity purified.

Liquid

ATP-dependent DNA helicase implicated in telomere-length regulation, DNA repair and the maintenance of genomic stability. Acts as an anti-recombinase to counteract toxic recombination and limit crossover during meiosis. Regulates meiotic recombination and crossover homeostasis by physically dissociating strand invasion events and thereby promotes noncrossover repair by meiotic synthesis dependent strand annealing (SDSA) as well as disassembly of D loop recombination intermediates. Also disassembles T loops and prevents telomere fragility by counteracting telomeric G4-DNA structures, which together ensure the dynamics and stability of the telomere.

1. Ballew, B. J., Yeager, M., Jacobs, K., Giri, N., Boland, J., Burdett, L., Alter, B. P., Savage, S. A. Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in dyskeratosis congenita. Hum. Genet. 132: 473-480, 2013. 2. Walne, A. J., Vulliamy, T., Kirwan, M., Plagnol, V., Dokal, I. Constitutional mutations in RTEL1 cause severe dyskeratosis congenita. Am. J. Hum. Genet. 92: 448-453, 2013.

At -20 ̊C for one year from date of receipt. Avoid repeated freezing and thawing. Protect from light.

6

Regulator of telomere elongation helicase 1

Nucleus.

Rabbit IgG

Each vial contains 50% glycerol, 0.9% NaCl, 0.2% Na2HPO4, 0.02% NaN3.