Bloomâ€™s syndrome is an autosomal recessive disorder characterized by pre- and post-natal growth deficiencies, sun sensitivity, immunodeficiency and a predisposition to various cancers. The gene responsible for Bloomâ€™s syndrome, BLM, encodes a protein homologous to the RecQ helicase of E. coli and is mutated in most Bloomâ€™s syndrome patients. One characteristic of Bloomâ€™s syndrome is an increased frequency of sister chromatid exchange (SCE). BLM has been shown to unwind G4 DNA, and a failure of this function is thought to be responsible for the increased rate of SCE. BLM is known to be translocated to the nucleus, where its ATPase activity is stimulated by both single- and double-stranded DNA. Mutations in the yeast SGS1, a homolog of BLM, are known to cause mitotic hyperrecombination similiar to that observed in Bloomâ€™s cells.
Synonyms: BLM, BLM_HUMAN, Bloom Syndrome, Bloom syndrome protein, Bloom syndrome RecQ helicase like, BS, DNA Helicase, DNA helicase RecQ like type 2, MGC126616, MGC131618, MGC131620, RECQ 2, RECQ like, RecQ like type 2, RecQ protein like 3, RecQ Protein-like 3, RECQ-2, RECQ-Like, RecQ-like type 2, RECQ2, RECQL 2, RECQL 3, RECQL-2, RECQL-3, RECQL2, RECQL3, type 2.