Disease:Defects in BLM are the cause of Bloom syndrome (BLM) [MIM:210900]. BLM is an autosomal recessive disorder characterized by proportionate pre- and postnatal growth deficiency , sun-sensitive telangiectatic hypo- and hyperpigmented skin , predisposition to malignancy , and chromosomal instability. ,Function:Participates in DNA replication and repair. Exhibits a magnesium-dependent ATP-dependent DNA-helicase activity that unwinds single- and double-stranded DNA in a 3'-5' direction. ,online information:BLM mutation db ,PTM:Phosphorylated in response to DNA damage. Phosphorylation requires the FANCA-FANCC-FANCE-FANCF-FANCG protein complex , as well as the presence of RMI1. ,similarity:Belongs to the helicase family. RecQ subfamily. ,similarity:Contains 1 helicase ATP-binding domain. ,similarity:Contains 1 helicase C-terminal domain. ,similarity:Contains 1 HRDC domain. ,subunit:Part of the BRCA1-associated genome surveillance complex (BASC) , which contains BRCA1 , MSH2 , MSH6 , MLH1 , ATM , BLM , PMS2 and the RAD50-MRE11-NBS1 protein complex. This association could be a dynamic process changing throughout the cell cycle and within subnuclear domains. Interacts with ubiquitinated FANCD2. Interacts with RMI complex. Interacts directly with RMI1 component of RMI complex. ,
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