RecName: Full=N-acylneuraminate cytidylyltransferase; AltName: Full=CM - Protein

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A homozygous mutation in CMAS causes autosomal recessive intellectual disability in a Kazakh family. [Ann Hum Genet. 2020]
A homozygous mutation in CMAS causes autosomal recessive intellectual disability in a Kazakh family.
Qu R, Sang Q, Wang X, Xu Y, Chen B, Mu J, Zhang Z, Jin L, He L, Wang L. Ann Hum Genet. 2020 Jan; 84(1):46-53. Epub 2019 Sep 8.
CMP‑N‑acetylneuraminic acid synthetase interacts with fragile X related protein 1. [Mol Med Rep. 2016]
CMP‑N‑acetylneuraminic acid synthetase interacts with fragile X related protein 1.
Ma Y, Tian S, Wang Z, Wang C, Chen X, Li W, Yang Y, He S. Mol Med Rep. 2016 Aug; 14(2):1501-8. Epub 2016 Jun 23.
A C-terminal phosphatase module conserved in vertebrate CMP-sialic acid synthetases provides a tetramerization interface for the physiologically active enzyme. [J Mol Biol. 2009]
A C-terminal phosphatase module conserved in vertebrate CMP-sialic acid synthetases provides a tetramerization interface for the physiologically active enzyme.
Oschlies M, Dickmanns A, Haselhorst T, Schaper W, Stummeyer K, Tiralongo J, Weinhold B, Gerardy-Schahn R, von Itzstein M, Ficner R, et al. J Mol Biol. 2009 Oct 16; 393(1):83-97. Epub 2009 Aug 8.

RefSeq protein
See the reference protein sequence for N-acylneuraminate cytidylyltransferase (NP_061156.1).

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Q8NFW8 [Domain Mapping of Disease Mut...]
Q8NFW8
Domain Mapping of Disease Mutations
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RecName: Full=N-acylneuraminate cytidylyltransferase; AltName: Full=CMP-N-acetyl...
RecName: Full=N-acylneuraminate cytidylyltransferase; AltName: Full=CMP-N-acetylneuraminic acid synthase; Short=CMP-NeuNAc synthase
gi|68059539|sp|Q8NFW8.2|NEUA_HUMAN

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