BLM, Official Symbol BLMprovided by HGNC Official Full Name BLM RecQ like helicaseprovided by HGNC Primary source HGNC:HGNC:1058 See related Ensembl:ENSG00000197299 MIM:604610; AllianceGenome:HGNC:1058 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as BS; RECQ2; RECQL2; RECQL3; MGRISCE1 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 See more Orthologs mouse all