Recombinant Human BLM Protein

• Cat.No.: BLM-34H
• Product Overview: Recombinant human BLM protein without tag was expressed in E. coli.

Specification

• Description: 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.
• Source: E. coli
• Species: Human
• Form: Lyophilized
• Molecular Mass: 75 kDa
• AA Sequence: MSRNLKHERFQSLSFPHTKEMMKIFHKKFGLHNFRTNQLEAINAALLGEDCFILMPTGGGKSLCYQLPACVSPGVTVVISPLRSLIVDQVQKLTSLDIPATYLTGDKTDSEATNIYLQLSKKDPIIKLLYVTPEKICASNRLISTLENLYERKLLARFVIDEAHCVSQWGHDFRQDYKRMNMLRQKFPSVPVMALTATANPRVQKDILTQLKILRPQVFSMSFNRHNLKYYVLPKKPKKVAFDCLEWIRKHHPYDSGIIYCLSRRECDTMADTLQRDGLAALAYHAGLSDSARDEVQQKWINQDGCQVICATIAFGMGIDKPDVRFVIHASLPKSVEGYYQESGRAGRDGEISHCLLFYTYHDVTRLKRLIMMEKDGNHHTRETHFNNLYSMVHYCENITECRRIQLLAYFGENGFNPDFCKKHPDVSCDNCCKTKDYKTRDVTDDVKSIVRFVQEHSSSQGMRNIKHVGPSGRFTMNMLVDIFLGSKSAKIQSGIFGKGSAYSRHNAERLFKKLILDKILDEDLYINANDQAIAYVMLGNKAQTVLNGNLKVDFMETENSSSVKKQKALVAKVSQREEMVKKCLGELTEVCKSLGKVFGVHYFNIFNTVTLKKLAESLSSDPEVLLQIDGVTEDKLEKYGAEVISVLQKYSEWTSPAEDSSPG
• Purity: > 90% by SDS-PAGE
• Storage: Store it under sterile conditions at -20 to -80 centigrade. It is recommended that the protein be aliquoted for optimal storage. Avoid repeated freeze-thaw cycles.
• Storage Buffer: Lyophilized from 50mM Tris, 500mM NaCl, pH 7.5, 5% Trehalose, 5% Manitol

Gene Information

• Gene Name: BLM BLM RecQ like helicase [ Homo sapiens (human) ]
• Official Symbol: BLM
• Synonyms: BLM; BLM RecQ like helicase; BS; RECQ2; RECQL2; RECQL3; MGRISCE1; recQ-like DNA helicase BLM; Bloom syndrome RecQ like helicase; Bloom syndrome, RecQ helicase-like; DNA helicase, RecQ-like type 2; bloom syndrome protein; recQ protein-like 3; EC 3.6.4.12
• Gene ID: 641
• mRNA Refseq: NM_000057
• Protein Refseq: NP_000048
• MIM: 604610
• UniProt ID: P54132