OMIA:002410 : CMAH enzyme deficiency

Categories: Immune system phene

Possible human homologue (MIM number): 603209 (gene)

Links to MONDO diseases: No links.

Cross-species summary: N-glycolylneuraminic acid (NeuGc), a sialic acid involved in cell-cell recognition and cell-pathogen interactions, is abundantly expressed in most mammals but is not detectable in humans. The synthesis of NeuGc is controlled by cytidine monophospho-N-acetylneuraminic acid hydroxylase (CMAH) activity. The enzyme CMAH is inactivated in humans by a deletion.

Species in which this phene is found:
pig (Sus scrofa)
taurine cattle (Bos taurus)

Edit History


  • Created by Imke Tammen2 on 28 Aug 2021
  • Changed by Imke Tammen2 on 28 Aug 2021
  • Changed by Imke Tammen2 on 25 Sep 2021