TTR mouse Monoclonal Antibody(2B12), 100ul Enzyme Activity Assays Defects in HSPB1 are a

Defects in HSPB1 are a cause of Charcot-Marie-Tooth disease type 2F (CMT2F) and distal hereditary motor neuropathy (dHMN)

30 12-amino acid repeats beginning at nt 60 with the consensus sequence ASEGPSTSVLPT

GO annotations related to this gene include sequence-specific DNA binding and RNA polymerase II core promoter proximal region sequence-specific DNA binding

Amplification and/or overexpression of this gene has been reported in numerous cancers

Inhibitor of nuclear factor kappa-B kinase subunit alpha

TTR mouse Monoclonal Antibody(2B12), 100ul Enzyme Activity Assays Defects in HSPB1 are aThis gene encodes transthyretin, one of the three prealbumins including alpha 1 antitrypsin, transthyretin and orosomucoid. Transthyretin is a carrier protein it transports thyroid hormones in the plasma and cerebrospinal fluid, and also transports retinol (vitamin A) in the plasma. The protein consists of a tetramer of identical subunits. More than 80 different mutations in this gene have been reported most mutations are related to amyloid