EFR3B, EFR3B_HUMAN, KIAA0953, Protein EFR3 homolog B.
EFR3B (EFR3 homolog B) is an 817 amino acid protein that exists as three alternatively spliced isoforms and belongs to the EFR3 family. The gene encoding EFR3B maps to human chromosome 2p23.3 and mouse chromosome 12 A1.1. Human chromosome 2 is the second largest human chromosome, which consists of 237 million bases, encodes over 1,400 genes and makes 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, Alstr_ 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.
