蛋白质/抗原/多肽 >> 重组蛋白
重组12号染色体开放阅读框49蛋白
产品介绍 基因名: Spring1 产品别名: 2410131K14Rik; Spring; Spring1; SREBF pathway regulator in golgi 1; SREBF pathway regulator in golgi 1; SREBP regulating gene protein; UPF0454 protein C12orf49 homolog; 12号染色体开放阅读框49; 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 C12orf49 gene product has been provisionally designated C12orf49 pending further characterization. 标签:His-tag |
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