Anti-RECQL4 antibody

Supplementary info

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

Activity summary

RECQL4 also known as RecQ protein-like 4 is a member of the RecQ helicase family predominantly found in the nucleus. This protein weighs approximately 133 kDa. It functions as a DNA helicase responsible for unwinding DNA strands playing an essential role in DNA replication repair and maintenance. Expression of RECQL4 occurs in various tissues with high levels noted in the testis thymus and fetal tissues. Its involvement in DNA manipulation places it at the center of maintaining genome integrity.

Biological function summary

RECQL4 participates in critical cellular processes. As part of the DNA replication complex it ensures the accurate replication of DNA minimizing errors that could lead to genomic instability. Its role extends to telomere maintenance ensuring that the chromosome ends are preserved during cell division. RECQL4 also contributes to the recovery of stalled replication forks preventing prolonged cell cycle arrest and potential DNA damage. This helicase along with other proteins in the RecQ family acts as a guardian of the genome.

Pathways

RECQL4 participates in the DNA damage response and repair pathways. It interacts with proteins such as ATR an important player in the DNA damage response pathway facilitating cell cycle checkpoints and repair processes. Additionally RECQL4 is involved in telomere maintenance associated with the telomerase pathway in cooperation with TRF1 a telomere-binding protein. These interactions highlight its role in safeguarding genome stability through efficient DNA repair and replication.

Associated diseases and disorders

Mutations in RECQL4 are linked to Rothmund-Thomson syndrome characterized by skin rash skeletal anomalies and predisposition to cancer. Defects in this protein can also lead to potential association with other genomic instability syndromes. Notably the connection of RECQL4 with p53 a critical regulator of the cell cycle and apoptosis highlights its importance in disease pathways. These associations emphasize the need for proper RECQL4 function for maintaining cellular health and preventing disorder manifestations.