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KBTBD5 encodes a protein containing a BACK domain, a BTB/POZ domain, and 5 Kelch repeats, however, its exact function is not known. Additionally we are shipping Kelch Repeat and BTB (POZ) Domain Containing 5 Proteins (3) and and many more products for this protein.
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Cow (Bovine) Polyclonal KBTBD5 Primary Antibody for WB - ABIN2778501
Gerhard, Wagner, Feingold, Shenmen, Grouse, Schuler, Klein, Old, Rasooly, Good, Guyer, Peck, Derge, Lipman, Collins, Jang, Sherry, Feolo, Misquitta, Lee, Rotmistrovsky, Greenhut, Schaefer, Buetow et al.: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). ... in Genome research 2004
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Horse (Equine) Polyclonal KBTBD5 Primary Antibody for WB - ABIN2775940
Gunnarsdóttir, Li, Bauchet, Finstermeier, Stoneking: High-throughput sequencing of complete human mtDNA genomes from the Philippines. in Genome research 2011
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Human Polyclonal KBTBD5 Primary Antibody for ICC, IF - ABIN4328450
Ravenscroft, Miyatake, Lehtokari, Todd, Vornanen, Yau, Hayashi, Miyake, Tsurusaki, Doi, Saitsu, Osaka, Yamashita, Ohya, Sakamoto, Koshimizu, Imamura, Yamashita, Ogata, Shiina, Bryson-Richardson, Vaz et al.: Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy. ... in American journal of human genetics 2013
Kbtbd5 regulates skeletal muscle myogenesis through the regulation of E2F1-DP1 activity
NEB and LMOD3 were reduced in skeletal muscle of Klhl40-/- mice, providing a potential basis for the development of experimental nemaline myopathy.
we have demonstrated that Kbtbd5 is the direct downstream target gene of the Myod family and regulates myogenic differentiation.
Two compound heterozygous mutations; c.602G > A(p.W201*) and c.1516A > C(p.T506P), in the Kelch-like 40 (KLHL40) gene were discovered in a family with 3 fetuses affected by fetal akinesia deformation sequence.
NEB and LMOD3 were reduced in skeletal muscle of KLHL40-deficient patients, providing a potential basis for the development of nemaline myopathy.
KLHL40 mutations as a frequent cause of severe autosomal-recessive nemaline myopathy. It plays a key role in muscle development and function.
This 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.
kelch repeat and BTB domain-containing protein 5
, kelch repeat and BTB (POZ) domain containing 5
, kelch repeat and BTB domain-containing protein 5-like
, kelch-like protein 40