Recombinant Human CMAHP Protein, GST-tagged

• Cat.No.: CMAHP-1531H
• Product Overview: Human CMAH partial ORF ( BAA31160, 385 a.a. - 485 a.a.) recombinant protein with GST-tag at N-terminal.

Specification

• Species: Human
• Source: Wheat Germ
• Tag: GST
• Description: Sialic acids are terminal components of the carbohydrate chains of glycoconjugates involved in ligand-receptor, cell-cell, and cell-pathogen interactions. The two most common forms of sialic acid found in mammalian cells are N-acetylneuraminic acid (Neu5Ac) and its hydroxylated derivative, N-glycolylneuraminic acid (Neu5Gc). Studies of sialic acid distribution show that Neu5Gc is not detectable in normal human tissues although it was an abundant sialic acid in other mammals. Neu5Gc is, in actuality, immunogenic in humans. The absense of Neu5Gc in humans is due to a deletion within the human gene CMAH encoding cytidine monophosphate-N-acetylneuraminic acid hydroxylase, an enzyme responsible for Neu5Gc biosynthesis. Sequences encoding the mouse, pig, and chimpanzee hydroxylase enzymes were obtained by cDNA cloning and found to be highly homologous. However, the homologous human cDNA differs from these cDNAs by a 92-bp deletion in the 5' region. This deletion, corresponding to exon 6 of the mouse hydroxylase gene, causes a frameshift mutation and premature termination of the polypeptide chain in human. It seems unlikely that the truncated human hydroxylase mRNA encodes for an active enzyme explaining why Neu5Gc is undetectable in normal human tissues. Human genomic DNA also shows evidence of this deletion which does not occur in the genomes of African great apes. Nonetheless, the CMAH gene maps to 6p21.32 in humans and great apes indicating that mutation of the CMAH gene occurred following human divergence from chimpanzees and bonobos. [provided by RefSeq, Jul 2008]
• Molecular Mass: 36.85 kDa
• AA Sequence: GYDYLVDFLDLSFPKERPQREHPYEEIHSRVDVIRHVVKNGLLWDELYIGFQTRLQRDPDIYHHLFWNHFQIKLPLTPPNWKSFLMCCEQNGPAILQECKT
• Applications: Enzyme-linked Immunoabsorbent Assay
  Western Blot (Recombinant protein)
  Antibody Production
  Protein Array
• Notes: Best use within three months from the date of receipt of this protein.
• Storage: Store at -80 centigrade. Aliquot to avoid repeated freezing and thawing.
• Storage Buffer: 50 mM Tris-HCI, 10 mM reduced Glutathione, pH=8.0 in the elution buffer.

Gene Information

• Gene Name: CMAHP cytidine monophospho-N-acetylneuraminic acid hydroxylase, pseudogene [ Homo sapiens (human) ]
• Official Symbol: CMAHP
• Synonyms: CMAHP; cytidine monophospho-N-acetylneuraminic acid hydroxylase, pseudogene; Cytidine Monophospho-N-Acetylneuraminic Acid Hydroxylase, Pseudogene; Cytidine Monophosphate-N-Acetylneuraminic Acid Hydroxylase (CMP-N-Acetylneuraminate Monooxygenase)(Pseudogene); CMAH; Cytidine Monophosphate-N-Acetylneuraminic Acid Hydroxylase Pseudogene; CMP-N-Acetylneuraminic Acid Hydroxylase; CMP-NeuAc Hydroxylase-Like Protein; CMP-Sialic Acid Hydroxylase; CMP-Neu5Ac Hydroxylase; CMP-NeuAc Hydroxylase; EC 1.14.18.2; CSAH
• Gene ID: 8418
• MIM: 603209
• UniProt ID: Q9Y471