(Kelch Repeat and BTB (POZ) Domain Containing 5 (KBTBD5))
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. [provided by RefSeq, Dec 2012].
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, Vol. 93, Issue 1, pp. 6-18, (2013) (PubMed).
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, Vol. 14, Issue 10B, pp. 2121-7, (2004) (PubMed).
Aliases for KBTBD5 抗体
kelch like family member 40 (klhl40) 抗体 kelch-like family member 40a (klhl40a) 抗体 kelch like family member 40 (KLHL40) 抗体 kelch-like 40 (Klhl40) 抗体 kelch like family member 40 S homeolog (klhl40.S) 抗体 kelch-like family member 40 (Klhl40) 抗体 2310024D23Rik 抗体 Kbtbd5 抗体 MGC97620 抗体 SRYP 抗体