zgc:77397 antibody, fakd1 antibody, 5330408N05Rik antibody, mKIAA1800 antibody, RGD1563531 antibody, FAST kinase domains 1 antibody, FAST kinase domain-containing protein 1 antibody, FAST kinase domains 1 L homeolog antibody, fastkd1 antibody, fakd1 antibody, FASTKD1 antibody, Fastkd1 antibody, fastkd1.L antibody
背景
The second largest human chromosome, 2 consists of 237 million bases encoding over 1,400 genes and making up approximately 8 % of the human genome. A number of genetic diseases are linked to genes on chromosome 2. Harlequin icthyosis, a rare and morbid skin deformity, is associated with mutations in the ABCA12 gene. The lipid metabolic disorder sitosterolemia is associated with ABCG5 and ABCG8. An extremely rare recessive genetic disorder, Alstrm syndrome is due to mutations in the ALMS1 gene. Interestingly, chromosome 2 contains what appears to be a vestigial second centromere and vestigial telomeres which gives credence to the hypothesis that human chromosome 2 is the result of an ancient fusion of two ancestral chromosomes seen in modern form today in apes.