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重组4号染色体开放阅读框29蛋白
产品名称 Recombinant ABHD18 Recombinant abhydrolase domain containing 18 protein 产品介绍
基因名: ABHD18 产品别名: C4orf29; ABHD18; abhydrolase domain containing 18; abhydrolase domain containing 18; protein ABHD18; abhydrolase domain-containing protein 18; alpha/beta hydrolase domain-containing protein 18; 4号染色体开放阅读框29; 背景信息: C4orf29 (chromosome 4 open reading frame 29) is a 414 amino acid secreted protein that exists as four alternatively spliced isoforms and is encoded by a gene that maps to human chromosome 4. Human chromosome 4 represents approximately 6% of the human genome and contains nearly 900 genes. Notably, the Huntingtin gene, which is found to encode an expanded glutamine tract in cases of Huntington's disease, is located on chromosome 4. FGFR-3 is also encoded by a gene that maps to human chromosome 4 and has been associated with thanatophoric dwarfism, achondroplasia, Muenke syndrome and bladder cancer. Chromosome 4 is also tied to Ellis-van Creveld syndrome, methylmalonic acidemia and polycystic kidney disease. |
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