OMIA:002410-9913 : CMAH enzyme deficiency in Bos taurus (taurine cattle)

In other species: pig

Categories: Immune system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 603209 (gene)

Mendelian trait/disorder: yes

Considered a defect: no

Key variant known: no

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-specific description: This phene includes references to studies involving genetically modified organisms (GMO).

Genetic engineering: Yes - in addition to the occurrence of natural variants, variants have been created artificially, e.g. by genetic engineering or gene editing
Have human generated variants been created, e.g. through genetic engineering and gene editing

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
CMAH cytidine monophospho-N-acetylneuraminic acid hydroxylase Bos taurus 23 NC_037350.1 (32672546..32755486) CMAH Homologene, Ensembl , NCBI gene

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002410-9913: Online Mendelian Inheritance in Animals (OMIA) [dataset].


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.

2023 Ogun, O.J., Soremekun, O.S., Thaller, G., Becker, D. :
An in silico functional analysis of non-synonymous single-nucleotide polymorphisms of bovine CMAH gene and potential implication in pathogenesis. Pathogens 12:591, 2023. Pubmed reference: 37111477. DOI: 10.3390/pathogens12040591.
2019 Perota, A., Galli, C. :
N-glycolylneuraminic acid (Neu5Gc) null large animals by targeting the CMP-Neu5Gc hydroxylase (CMAH). Front Immunol 10:2396, 2019. Pubmed reference: 31681287. DOI: 10.3389/fimmu.2019.02396.
Perota, A., Lagutina, I., Duchi, R., Zanfrini, E., Lazzari, G., Judor, J.P., Conchon, S., Bach, J.M., Bottio, T., Gerosa, G., Costa, C., Gali├▒anes, M., Roussel, J.C., Padler-Karavani, V., Cozzi, E., Soulillou, J.P., Galli, C. :
Generation of cattle knockout for galactose-╬▒1,3-galactose and N-glycolylneuraminic acid antigens. Xenotransplantation 26:e12524, 2019. Pubmed reference: 31115108. DOI: 10.1111/xen.12524.
2007 Lagutina, I., Lazzari, G., Duchi, R., Turini, P., Tessaro, I., Brunetti, D., Colleoni, S., Crotti, G., Galli, C. :
Comparative aspects of somatic cell nuclear transfer with conventional and zona-free method in cattle, horse, pig and sheep. Theriogenology 67:90-8, 2007. Pubmed reference: 17081599. DOI: 10.1016/j.theriogenology.2006.09.011.

Edit History

  • Created by Imke Tammen2 on 28 Aug 2021
  • Changed by Imke Tammen2 on 28 Aug 2021
  • Changed by Imke Tammen2 on 18 Dec 2023