第12号染色体开放阅读框23抗体
产品名称: 第12号染色体开放阅读框23抗体
英文名称: C12orf23
产品编号: bs-6987R
产品价格: null
产品产地: 北京
品牌商标: BIOSS
更新时间: 2024-03-25T11:31:47
使用范围: ELISA=1:500-1000,IHC-P=1:100-500,IHC-F=1:100-500,IF=1:50-200,
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C12orf23 (chromosome 12 open reading frame 23), also known as FLJ11721, FLJ13959 or MGC17943, is a 116 amino acid multi-pass membrane protein belonging to the UPF0444 family. C12orf23 is encoded by a gene located on human chromosome 12, which encodes over 1,100 genes and comprises approximately 4.5% of the human genome. Chromosome 12 is associated with a number of skeletal deformities, 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.