2017-5-4
英文名称 Anti-C9orf169
中文名称 9号染色体开放阅读框169抗体
别 名 C9orf169; Chromosome 9 open reading frame 169; CI169_HUMAN; MGC59937; UPF0574 protein C9orf169.
详细介绍:
相关资料:
产品介绍 C9orf169 (chromosome 9 open reading frame 169) is a 423 amino acid single-pass membrane protein that belongs to the clpA/clpB family and torsin subfamily. The gene encoding C9orf169 maps to human chromosome 9q34.3. 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.
Similarity : Belongs to the UPF0574 family.
Database links : UniProtKB/Swiss-Prot: A8MQ03.1
上海研生实业有限公司 版权所有