Product Data | |
Description | Recombinant protein of human hydroxymethylbilane synthase (HMBS), transcript variant 1 |
Species | Human |
Expression Host | HEK293T |
Expression cDNA Clone or AA Sequence | Recombinant protein was produced with TrueORF clone, RC201362. Click on the TrueORF clone link to view cDNA and protein sequences. |
Tag | C-Myc/DDK |
Predicted MW | 39.1 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 | 3145 |
Refseq Size | 1526 |
Cytogenetics | 11q23.3 |
Refseq ORF | 1083 |
Synonyms | PBG-D; PBGD; PORC; UPS |
Summary | This gene encodes a member of the hydroxymethylbilane synthase superfamily. The encoded protein is the third enzyme of the heme biosynthetic pathway and catalyzes the head to tail condensation of four porphobilinogen molecules into the linear hydroxymethylbilane. Mutations in this gene are associated with the autosomal dominant disease acute intermittent porphyria. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] |
Protein Families | Druggable Genome |
Protein Pathways | Metabolic pathways, Porphyrin and chlorophyll metabolism |
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