2017-5-4
英文名称 Anti-C9orf23
中文名称 9号染色体开放阅读框23抗体
别 名 Alba like protein C9orf23; bA296L22.5; C9orf23; MGC29635; Ribonuclease P protein subunit p25 like protein; Ribonuclease P/MRP 25kDa subunit like; RNase P protein subunit like p25; Rpp25 like protein; RPP25L; RP25L_HUMAN.
详细介绍:
相关资料:
产品介绍 C9orf23 (chromosome 9 open reading frame 23) is a 163 amino acid protein that belongs to the histone-like Alba family and is encoded by a gene that maps to human chromosome 9p13.3. 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.
Function : May be a component of ribonuclease P or MRP.
Subcellular Location : Nucleus (Probable).
Similarity : Belongs to the histone-like Alba family.
Database links : UniProtKB/Swiss-Prot: Q8N5L8.1
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