Mutations in this gene are associated with Nijmegen breakage syndrome, an autosomal recessive chromosomal instability syndrome characterized by microcephaly, growth retardation, immunodeficiency, and cancer predisposition. The encoded protein is a member of the MRE11/RAD50 double-strand break repair complex which consists of 5 proteins. This gene product is thought to be involved in DNA double-strand break repair and DNA damage-induced checkpoint activation.
Immunogen Information
Immunogen
A synthetic peptide of human NBS1/NBN
Gene ID
4683
Swissprot
O60934
Synonyms
NBNAT-V1AT-V2ATVNBSNBS1P95nibrin
Calculated MW
15kDa/21kDa
Observed MW
Refer to figures
Applications
Reactivity
Human
Tested Applications
WB,IF
Conjugation
Unconjugated
Dilution
WB 1:500-1:2000,IF 1:50-1:200
Concentration
1mg/mL
Storage Buffer
PBS with 0.02% sodium azide,50% glycerol,pH7.3.
Storage Instructions
Store at -20°C Valid for 12 months. Avoid freeze / thaw cycles.