基因名:
KRCC1
产品别名:
CHBP2; KRCC1; lysine rich coiled-coil 1; lysine rich coiled-coil 1; lysine-rich coiled-coil protein 1; cryptogenic hepatitis-binding protein 2; 含赖氨酸卷曲螺旋蛋白1;
背景信息:
KRCC1 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, Alstr鰉 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.