Rabbit Polyclonal Antibody to KRCC1

KRCC1 (lysine-rich coiled-coil 1), also known as CHBP2 (cryptogenic hepatitis-binding protein 2), is a 259 amino acid protein that is encoded by a gene located on human chromosome 2p11.2. Consisting of 237 million bases, chromosome 2 is the second largest human chromosome and encodes over 1,400 genes. 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, Alström 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.