2017-5-4
英文名称 Anti-C9orf57
中文名称 9号染色体开放阅读框57抗体
别 名 C9orf57; Chromosome 9 open reading frame 57; CI057_HUMAN; RP11-346E17.3; Uncharacterized protein C9orf57.
详细介绍:
相关资料:
产品介绍 Chromosome 9 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. The C9orf57 gene product has been provisionally designated C9orf57 pending further characterization.
Subcellular Location : Membrane; Single-pass membrane protein (Potential).
Database links : UniProtKB/Swiss-Prot: Q5W0N0.1
上海研生实业有限公司 版权所有