| 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 : |
MSRNLKHERFQSLSFPHTKEMMKIF HKKFGLHNFRTNQLEAINAALLGED CFILMPTGGGKSLCYQLPACVSPGV TVVISPLRSLIVDQVQKLTSLDIPA TYLTGDKTDSEATNIYLQLSKKDPI IKLLYVTPEKICASNRLISTLENLY ERKLLARFVIDEAHCVSQWGHDFRQ DYKRMNMLRQKFPSVPVMALTATAN PRVQKDILTQLKILRPQVFSMSFNR HNLKYYVLPKKPKKVAFDCLEWIRK HHPYDSGIIYCLSRRECDTMADTLQ RDGLAALAYHAGLSDSARDEVQQKW INQDGCQVICATIAFGMGIDKPDVR FVIHASLPKSVEGYYQESGRAGRDG EISHCLLFYTYHDVTRLKRLIMMEK DGNHHTRETHFNNLYSMVHYCENIT ECRRIQLLAYFGENGFNPDFCKKHP DVSCDNCCKTKDYKTRDVTDDVKSI VRFVQEHSSSQGMRNIKHVGPSGRF TMNMLVDIFLGSKSAKIQSGIFGKG SAYSRHNAERLFKKLILDKILDEDL YINANDQAIAYVMLGNKAQTVLNGN LKVDFMETENSSSVKKQKALVAKVS QREEMVKKCLGELTEVCKSLGKVFG VHYFNIFNTVTLKKLAESLSSDPEV LLQIDGVTEDKLEKYGAEVISVLQK YSEWTSPAEDSSPG |
| 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 |
