2017-5-4
英文名称 Anti-C9orf79
中文名称 9号染色体开放阅读框79抗体
别 名 C9orf79; Chromosome 9 open reading frame 79; S31E1_HUMAN; FAM75-like protein C9orf79.
详细介绍:
相关资料:
产品介绍 C9orf79 is a 1,445 amino acid single-pass membrane protein that belongs to the FAM75 family. The gene encoding C9orf79 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.
Function : May play a role in spermatogenesis (By similarity).
Subcellular Location : Membrane; Single-pass membrane protein (Potential).
Similarity : Belongs to the SPATA31 family.
Database links : UniProtKB/Swiss-Prot: Q6ZUB1.2
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