9號染色體開放閱讀框30抗體
產品名稱: 9號染色體開放閱讀框30抗體
英文名稱: C9orf30
產品編號: bs-15326R
產品價格: null
產品產地: 北京
品牌商標: BIOSS
更新時間: 2025-11-13T16:50:54
使用范圍: WB=1:100-500,ELISA=1:500-1000,IHC-P=1:100-500,IHC-F=1:100-500,ICC=1:100-500,IF=1:100-500,
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C9orf30 is a 275 amino acid protein that is expressed in brain and belongs to the UPF0439 family. The gene encoding C9orf30 maps to human chromosome 9q31.1. Chromosome 9 consists of about 145 million bases, represents 4% of the human genome and encodes nearly 900 genes. Thought to play a role in gender determination, deletion of the distal portion of 9p can lead to development of male to female sex reversal, the phenotype of a female with a male X,Y genotype. Hereditary hemorrhagic telangiectasia, which is characterized by harmful vascular defects, is associated with the chromosome 9 gene encoding endoglin protein, ENG. Familial dysautonomia is also associated with chromosome 9 though through the gene IKBKAP. Notably, chromosome 9 encompasses the largest interferon family gene cluster. Chromosome 9 is partnered with chromosome 22 in the translocation leading to the aberrant production of BCR-ABL fusion protein often found in leukemias.
