Gene BLM

Also known as

BS, RECQ2, RECQL3, Bloom syndrome RecQ like helicase

Overview

BLM (BLM RecQ Like Helicase) encodes a DNA helicase belonging to the RecQ helicase family. This enzyme plays critical roles in maintaining genome stability by unwinding DNA during replication, repair, and recombination. BLM is particularly important for resolving unusual DNA structures and preventing chromosomal aberrations.

Mutations in BLM cause Bloom syndrome, a rare autosomal recessive disorder characterized by short stature, sun-sensitive skin rash, immunodeficiency, and greatly increased risk of cancer at an early age. Individuals with Bloom syndrome have elevated rates of sister chromatid exchanges, a hallmark of the condition used for diagnosis.

Carrier status for BLM mutations is relatively common in individuals of Ashkenazi Jewish descent, where approximately 1 in 100 people carry a founder mutation. Understanding BLM genetic status is valuable for carrier screening and assessing cancer predisposition risk.

NutraHacker Raw DNA Analysis Products that include this gene

• Carrier Status & Drug Response Report

Upload raw DNA data to get your very own analysis of gene BLM through your personalized DNA reports.