CMAH

CMAHP
Identifiers
AliasesCMAHP, CMAH, CSAH, cytidine monophospho-N-acetylneuraminic acid hydroxylase, pseudogene
External IDsMGI: 103227; GeneCards: CMAHP; OMA:CMAHP - orthologs
Orthologs
SpeciesHumanMouse
Entrez

8418

12763

Ensembl

ENSG00000168405

ENSMUSG00000016756

UniProt

Q9Y471

Q61419

RefSeq (mRNA)

NM_003570

NM_001111110
NM_001284519
NM_001284520
NM_007717

RefSeq (protein)

n/a

NP_001104580
NP_001271448
NP_001271449
NP_031743

Location (UCSC)Chr 6: 25.06 – 25.45 MbChr 13: 24.51 – 24.66 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Cytidine monophospho-N-acetylneuraminic acid hydroxylase (Cmah) is an enzyme that is encoded by the CMAH gene.[5][6][7] In most mammals, the enzyme hydroxylates N-acetylneuraminic acid (Neu5Ac), producing N-glycolylneuraminic acid (Neu5Gc).[6] Neu5Ac and Neu5Gc are mammalian glycans that compose the glycocalyx, especially in sialoglycoproteins, which are part of the sialic acid family.[8] The CMAH equivalent in humans is a pseudogene (CMAHP);[9] there is no detectable Neu5Gc in normal human tissue.[6] This deficiency has a number of proposed effects on humans, including increased brain growth and improved self-recognition by the human immune system.[10][11] Incorporation of Neu5Gc from red meat and dairy into human tissues has been linked to chronic disease, including type-2 diabetes and chronic inflammation.[12][13]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000168405 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000016756 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Kawano T, Koyama S, Takematsu H, Kozutsumi Y, Kawasaki H, Kawashima S, et al. (July 1995). "Molecular cloning of cytidine monophospho-N-acetylneuraminic acid hydroxylase. Regulation of species- and tissue-specific expression of N-glycolylneuraminic acid". The Journal of Biological Chemistry. 270 (27): 16458–63. doi:10.1074/jbc.270.27.16458. PMID 7608218.
  6. ^ a b c Irie A, Koyama S, Kozutsumi Y, Kawasaki T, Suzuki A (June 1998). "The molecular basis for the absence of N-glycolylneuraminic acid in humans". The Journal of Biological Chemistry. 273 (25): 15866–71. doi:10.1074/jbc.273.25.15866. PMID 9624188.
  7. ^ "Entrez Gene: CMAH cytidine monophosphate-N-acetylneuraminic acid hydroxylase (CMP-N-acetylneuraminate monooxygenase)".
  8. ^ Kwon DN, Chang BS, Kim JH (2014). "Gene Expression and Pathway Analysis of Effects of the CMAH Deactivation on Mouse Lung, Kidney and Heart". PLOS ONE. 9 (9): 1–13. Bibcode:2014PLoSO...9j7559K. doi:10.1371/journal.pone.0107559. PMC 4167996. PMID 25229777.
  9. ^ "CMAHP cytidine monophospho-N-acetylneuraminic acid hydroxylase, pseudogene [Homo sapiens (human)]". NCBI GenBank. 12 Oct 2019.
  10. ^ Chou HH, Hayakawa T, Diaz S, Krings M, Indriati E, Leakey M, et al. (September 2002). "Inactivation of CMP-N-acetylneuraminic acid hydroxylase occurred prior to brain expansion during human evolution". Proceedings of the National Academy of Sciences of the United States of America. 99 (18): 11736–41. Bibcode:2002PNAS...9911736C. doi:10.1073/pnas.182257399. PMC 129338. PMID 12192086.
  11. ^ Varki A (2001). "Loss of N-glycolylneuraminic acid in humans: Mechanisms, consequences, and implications for hominid evolution". American Journal of Physical Anthropology. Suppl 33 (Suppl): 54–69. doi:10.1002/ajpa.10018. PMC 7159735. PMID 11786991.
  12. ^ Cite error: The named reference :6 was invoked but never defined (see the help page).
  13. ^ Cite error: The named reference pnas09146341072 was invoked but never defined (see the help page).