蛋白质/抗原/多肽 >> 重组蛋白
重组12号染色体开放阅读框53蛋白
半岛bd体育手机客户端 介绍
基因名:
PIANP 半岛bd体育手机客户端 别名: C12orf53; LEDA1; PANP; leda-1; PIANP; PILR alpha associated neural protein; PILR alpha associated neural protein; PILR alpha-associated neural protein; PILR-associating neural protein; liver endothelial differentiation-associated protein-1; paired immunoglobin-like type 2 receptor-associating neural protein; 12号染色体开放阅读框53; 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 C12orf53 gene product has been provisionally designated C12orf53 pending further characterization.
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