Synthetic peptide directed towards the N terminal region of human KBTBD10
Biochem/physiol Actions
KBTBD10 (KLHL41) belongs to the Kelch-like (KLHL) group of proteins that regulate motor function and myofibrillar function. Mutations in KLHL41 result in Nemaline Myopathy, several Mendelian diseases and cancer.
Sequence
Synthetic peptide located within the following region: MDSQRELAEELRLYQSTLLQDGLKDLLDEKKFIDCTLKAGDKSLPCHRLI
Physical form
Purified antibody supplied in 1x PBS buffer with 0.09% (w/v) sodium azide and 2% sucrose.
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Human molecular genetics, 28(15), 2549-2560 (2019-04-16)
Nemaline myopathy (NM) is the most common form of congenital myopathy that results in hypotonia and muscle weakness. This disease is clinically and genetically heterogeneous, but three recently discovered genes in NM encode for members of the Kelch family of
American journal of human genetics, 93(6), 1108-1117 (2013-11-26)
Nemaline myopathy (NM) is a rare congenital muscle disorder primarily affecting skeletal muscles that results in neonatal death in severe cases as a result of associated respiratory insufficiency. NM is thought to be a disease of sarcomeric thin filaments as
The Kelch-like (KLHL) gene family encodes a group of proteins that generally possess a BTB/POZ domain, a BACK domain, and five to six Kelch motifs. BTB domains facilitate protein binding and dimerization. The BACK domain has no known function yet
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