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Adenosine Monophosphate Deaminase 3 (AMPD3)

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Erythrocyte-Specific AMP Deaminase; AMP deaminase isoform E

Adenosine Monophosphate Deaminase 3 (AMPD3)
CCC G010
HGNC 470
MGI 1096344
PubMed 1400401
RGD 2111
UniProt Q01432
Wiki AMPD3
AMP deaminase 3 is a member of the AMP deaminase gene family. The encoded protein is a highly regulated enzyme that catalyzes the hydrolytic deamination of adenosine monophosphate to inosine monophosphate, a branch point in the adenylate catabolic pathway.
This gene encodes the erythrocyte (E) isoforms, whereas other family members encode isoforms that predominate in muscle (M) and liver (L) cells. Mutations in this gene lead to the clinically asymptomatic, autosomal recessive condition erythrocyte AMP deaminase deficiency. Alternatively spliced transcript variants encoding different isoforms of this gene have been described.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPG010Hu01 Recombinant Adenosine Monophosphate Deaminase 3 (AMPD3) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies n/a Monoclonal Antibody to Adenosine Monophosphate Deaminase 3 (AMPD3) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Adenosine Monophosphate Deaminase 3 (AMPD3) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Adenosine Monophosphate Deaminase 3 (AMPD3) CLIA Kit Customized Service Offer
n/a ELISA Kit for Adenosine Monophosphate Deaminase 3 (AMPD3) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPG010Mu01 Recombinant Adenosine Monophosphate Deaminase 3 (AMPD3) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies n/a Monoclonal Antibody to Adenosine Monophosphate Deaminase 3 (AMPD3) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Adenosine Monophosphate Deaminase 3 (AMPD3) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Adenosine Monophosphate Deaminase 3 (AMPD3) CLIA Kit Customized Service Offer
n/a ELISA Kit for Adenosine Monophosphate Deaminase 3 (AMPD3) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Adenosine Monophosphate Deaminase 3 (AMPD3) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Adenosine Monophosphate Deaminase 3 (AMPD3) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Adenosine Monophosphate Deaminase 3 (AMPD3) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Adenosine Monophosphate Deaminase 3 (AMPD3) CLIA Kit Customized Service Offer
n/a ELISA Kit for Adenosine Monophosphate Deaminase 3 (AMPD3) ELISA Kit Customized Service Offer
  1. "Cloning and nucleotide sequence of the cDNA encoding human erythrocyte-specific AMP deaminase."Biochim. Biophys. Acta 1171:125-128(1992) [PubMed] [Europe PMC] [Abstract]
  2. "Cloning of human AMP deaminase isoform E cDNAs. Evidence for a third AMPD gene exhibiting alternatively spliced 5'-exons."J. Biol. Chem. 267:20866-20877(1992) [PubMed] [Europe PMC] [Abstract]
  3. "Characterization of the human AMPD3 gene reveals that 5' exon useage is subject to transcriptional control by three tandem promoters and alternative splicing."Biochim. Biophys. Acta 1306:75-92(1996) [PubMed] [Europe PMC] [Abstract]
  4. "A point mutation responsible for human erythrocyte AMP deaminase deficiency."Hum. Mol. Genet. 3:331-334(1994) [PubMed] [Europe PMC] [Abstract]
  5. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  6. "Human chromosome 11 DNA sequence and analysis including novel gene identification." Nature 440:497-500(2006) [PubMed] [Europe PMC] [Abstract]
  7. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  8. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
  9. "Molecular basis for human erythrocyte AMP deaminase deficiency: screening for the major point mutation and identification of other mutations."Hum. Mol. Genet. 3:2243-2245(1994) [PubMed] [Europe PMC] [Abstract]
  10. "Gene mutations responsible for human erythrocyte AMP deaminase deficiency in Poles."Adv. Exp. Med. Biol. 431:347-350(1998) [PubMed] [Europe PMC] [Abstract]
  11. "A rare case of complete human erythrocyte AMP deaminase deficiency due to two novel missense mutations in AMPD3."Hum. Mutat. 17:78-78(2001) [PubMed] [Europe PMC] [Abstract]