The Anti-KLHL40 Antibody, Rabbit Polyclonal from MyBioSource.com is a Rabbit Polyclonal antibody. This antibody recognizes Human antigen. The Anti-KLHL40 Antibody, Rabbit Polyclonal has been validated for the following applications: Immunohistochemistry, and Immunohistochemistry - fixed.
Description
KLHL40 belongs to the BBK protein family; its members serve as substrate-specific adaptors that mediate ubiquitination and degradation of their respective substrates. KLHL40 is also known as KBTBD5 (KELCH repeat and BTB/POZ domain containing protein 5). The KLHL40 gene encodes a protein containing a BACK domain, a BTB/POZ domain, and 5 Kelch repeats, however, its exact function is not known. The gene and the multi-domain protein structure are conserved across different taxa, including primates, rodents, chicken and zebrafish. Loss of a muscle-specific protein, kelch-like family member 40 (KLHL40), results in a nemaline-like myopathy in mice that closely phenocopies muscle abnormalities observed in KLHL40-deficient patients. KLHL40 mutation associated with Cleft palate, nemaline myopathy and fetal akinesia