Biological Information

Background Information:

BLM is a member of the RecQ family of DNA helicases. Genetic mutations in the BLM gene cause a rare, autosomal recessive disorder, Bloom syndrome (BS) which is characterized by genomic instability, premature aging, predisposition to cancer, immunodeficiency, and pulmonary diseases. BLM has been shown to play a critical role in maintaining genomic integrity including DNA repair, recombination, replication and transcription. Its dysregulation affects the genomic instability of cells, which results in a high risk of developing various types of cancer.

Target Class:

Helicase

Family:

RecQ

Sub Family:

DNA helicase

Protein Aliases:

RECQ2, RECQL3

Accession Number:

NM_000057.4

UniProt Number:

P54132

Target Species:

Human

Usage

Product Type:

Enzymes

Application:

Drug Discovery & Development

Storage Conditions:

1 year at -70°C

Usage disclaimer:

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Assay Information

Assay Type:

Enzymatic

Bioassay Data

Trademark Statement:

For Research Use Only

Clinical Relevance

Therapeutic Area:

Oncology