CMAS | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
Aliases | CMAS , CSS, cytidine monophosphate N-acetylneuraminic acid synthetase | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 603316 MGI: 1337124 HomoloGene: 7670 GeneCards: CMAS | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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N-acylneuraminate cytidylyltransferase is an enzyme that in humans is encoded by the CMAS gene. [4] [5] [6]
The enzyme encoded by this gene catalyzes the activation of Neu5Ac to Cytidine 5-prime-monophosphate N-acetylneuraminic acid (CMP-Neu5Ac), which provides the substrate required for the addition of sialic acid. Sialic acids of cell surface glycoproteins and glycolipids play a pivotal role in the structure and function of animal tissues. The pattern of cell surface sialylation is highly regulated during embryonic development, and changes with stages of differentiation. Studies of a similar murine protein suggest that this protein localizes to the nucleus. [6]
Sialic acids are a class of alpha-keto acid sugars with a nine-carbon backbone. The term "sialic acid" was first introduced by Swedish biochemist Gunnar Blix in 1952. The most common member of this group is N-acetylneuraminic acid found in animals and some prokaryotes.
A salvage pathway is a pathway in which a biological product is produced from intermediates in the degradative pathway of its own or a similar substance. The term often refers to nucleotide salvage in particular, in which nucleotides are synthesized from intermediates in their degradative pathway.
Exo-α-sialidase is a glycoside hydrolase that cleaves the glycosidic linkages of neuraminic acids:
N-Acetylmannosamine is a hexosamine monosaccharide. It is a neutral, stable naturally occurring compound. N-Acetylmannosamine is also known as N-Acetyl-D-mannosamine monohydrate,, N-Acetyl-D-mannosamine which can be abbreviated to ManNAc or, less commonly, NAM). ManNAc is the first committed biological precursor of N-acetylneuraminic acid. Sialic acids are the negatively charged, terminal monosaccharides of carbohydrate chains that are attached to glycoproteins and glycolipids (glycans).
In enzymology, a CMP-N-acetylneuraminate monooxygenase (EC 1.14.18.2) is an enzyme that catalyzes the chemical reaction
The enzyme CMP-N-acylneuraminate phosphodiesterase (EC 3.1.4.40) catalyzes the reaction
In enzymology, a lactosylceramide alpha-2,3-sialyltransferase is an enzyme that catalyzes the chemical reaction
In enzymology, a N-acylneuraminate cytidylyltransferase is an enzyme that catalyzes the chemical reaction
Transcription factor SOX-5 is a protein that in humans is encoded by the SOX5 gene.
Uridine-cytidine kinase 2 (UCK2) is an enzyme that in humans is encoded by the UCK2 gene.
Sialic acid-binding Ig-like lectin 12, or Siglec-XII, is a protein that in humans, is encoded by the SIGLEC12 gene.
UMP-CMP kinase is an enzyme that in humans is encoded by the CMPK1 gene.
CMP-sialic acid transporter is a protein that in humans is encoded by the SLC35A1 gene.
Cytidine monophospho-N-acetylneuraminic acid hydroxylase (Cmah) is an enzyme that is encoded by the CMAH gene. In most mammals, the enzyme hydroxylates N-acetylneuraminic acid (Neu5Ac), producing N-glycolylneuraminic acid (Neu5Gc). Neu5Ac and Neu5Gc are mammalian glycans that compose the glycocalyx, especially in sialoglycoproteins, which are part of the sialic acid family. The CMAH equivalent in humans is a pseudogene (CMAHP); there is no detectable Neu5Gc in normal human tissue. This deficiency has a number of proposed effects on humans, including increased brain growth and improved self-recognition by the human immune system. Incorporation of Neu5Gc from red meat and dairy into human tissues has been linked to chronic disease, including type-2 diabetes and chronic inflammation.
Tryptophanyl-tRNA synthetase, mitochondrial is an enzyme that in humans is encoded by the WARS2 gene.
Sialic acid synthase is an enzyme that in humans is encoded by the NANS gene.
Long-chain-fatty-acid—CoA ligase ACSBG2 is an enzyme that in humans is encoded by the ACSBG2 gene.
CMAS may stand for:
N-Glycolylneuraminic acid (Neu5Gc) is a sialic acid molecule found in most non-human mammals. Humans cannot synthesize Neu5Gc because the human gene CMAH is irreversibly mutated, though it is found in other apes. It is absent in human tissues because of inactivation of gene encoding CMP-N-acetylneuraminic acid hydroxylase. The gene CMAH encodes for CMP-N-acetylneuraminic acid hydroxylase, which is the enzyme responsible for CMP-Neu5Gc from CMP-N-acetylneuraminic (CMP-Neu5Ac) acid. This loss of CMAH is estimated to have occurred 2-3 million years ago, just before the emergence of the genus Homo.
hCONDELs refer to regions of deletions within the human genome containing sequences that are highly conserved among closely related relatives. Almost all of these deletions fall within regions that perform non-coding functions. These represent a new class of regulatory sequences and may have played an important role in the development of specific traits and behavior that distinguish closely related organisms from each other.