2017-5-4
英文名称 Anti-C9orf96
中文名称 9号染色体开放阅读框96抗体
别 名 Chromosome 9 open reading frame 96; Hypothetical protein LOC169436; MGC43306; Protein kinase like protein SgK071; SGK 071; SGK071; SGK71_HUMAN.
详细介绍:
相关资料:
产品介绍 C9orf96, also known as Protein kinase-like protein SgK071, is a 680 amino acid protein that belongs to the Ser/Thr protein kinase family of the protein kinase superfamily. There are three isoforms of C9orf96 that are produced as a result of alternative splicing events. The gene encoding C9orf96 maps to human chromosome 9, which consists of about 145 million bases and 4% of the human genome and encodes nearly 900 genes. Considered 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.
Similarity : Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. STKL subfamily.
Contains 1 protein kinase domain.
Database links : UniProtKB/Swiss-Prot: Q8NE28.4
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