抗体 >> 其他抗体
12号染色体开放阅读框40抗体
半岛bd体育手机客户端 介绍
靶标:
C12orf40 半岛bd体育手机客户端 别名: HEL-206; HEL-S-94; C12orf40; chromosome 12 open reading frame 40; chromosome 12 open reading frame 40; uncharacterized protein C12orf40; epididymis luminal protein 206; epididymis secretory protein Li 94; 12号染色体开放阅读框40; 背景信息:
Encoding over 1,100 genes within 132 million bases, chromosome 12 makes up about 4.5% of the human genome. A number of skeletal deformities are linked to chromosome 12 including hypochondrogenesis, achondrogenesis and Kniest dysplasia. Noonan syndrome, which includes heart and facial developmental defects among the primary symptoms, is caused by a mutant form of PTPN11 gene product, SH-PTP2. Chromosome 12 is also home to a homeobox gene cluster which encodes crucial transcription factors for morphogenesis, and the natural killer complex gene cluster encoding C-type lectin proteins which mediate the NK cell response to MHC I interaction. Trisomy 12p leads to facial development defects, seizure disorders and a host of other symptoms varying in severity depending on the extent of mosaicism and is most severe in cases of complete trisomy. The C12orf40 gene product has been provisionally designated C12orf40 pending further characterization.
宿主:Rbt |
相关半岛bd体育手机客户端
|