Full name: BLM RecQ like helicase

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: BS; MGRISCE1; RECQ2; RECQL2; RECQL3

Summary: The Bloom syndrome is an autosomal recessive disorder characterized by growth deficiency, microcephaly and immunodeficiency among others. It is caused by homozygous or compound heterozygous mutation in the gene encoding DNA helicase RecQ protein on chromosome 15q26. This Bloom-associated helicase unwinds a variety of DNA substrates including Holliday junction, and is involved in several pathways contributing to the maintenance of genome stability. Identification of pathogenic Bloom variants is required for heterozygote testing in at-risk families. [provided by RefSeq, May 2020]

Expression: Biased expression in salivary gland (RPKM 10.0), lymph node (RPKM 3.9) and 12 other tissues

Gene size: 98821bp

Exon count: 24