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| Product Data | |
| Description | Recombinant protein of human adenosine monophosphate deaminase (isoform E) (AMPD3), transcript variant 1 |
| Species | Human |
| Expression Host | HEK293T |
| Expression cDNA Clone or AA Sequence | Recombinant protein was produced with TrueORF clone, RC212077. Click on the TrueORF clone link to view cDNA and protein sequences. |
| Tag | C-Myc/DDK |
| Predicted MW | 89.5 kDa |
| Concentration | >50 ug/mL as determined by microplate BCA method |
| Purity | > 80% as determined by SDS-PAGE and Coomassie blue staining |
| Buffer | 25 mM Tris.HCl, pH 7.3, 100 mM glycine, 10% glycerol |
| Reference Data | |
| Locus ID | 272 |
| Refseq Size | 4371 |
| Cytogenetics | 11p15.4 |
| Refseq ORF | 2328 |
| Synonyms | adenosine monophosphate deaminase (isoform E); adenosine monophosphate deaminase 3; AMP aminohydrolase; AMP deaminase 3; erythrocyte-specific AMP deaminase; erythrocyte type AMP deaminase; myoadenylate deaminase |
| Summary | This gene encodes 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. [provided by RefSeq, Jul 2008] |
| Protein Families | Druggable Genome |
| Protein Pathways | Metabolic pathways, Purine metabolism |
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