シアル酸
Of the 510 identified hCONDELs, only one of these deletions has been shown to remove a 92 bp sequence that is part of a protein-coding region in the human sequence. The deletion that affects the protein coding region in humans results in a frameshift mutation in the CMAH gene which codes for the cytidine monophosphate-N-acetylneurminic acid hydroxylase-like protein, an enzyme involved in the production of N-glycolylneuraminic acid, one type of sialic acid. Sialic acid is known to play a crucial part in cell signaling pathways and interaction processes. The loss of this gene is evident in the undetectable levels of sialic acid in humans but highly present in mouse, pig, chimpanzee and other mammal tissues and may provide more insight into the historic background of human evolution.