Recombinant Human Pterin-4-alpha-carbinolamine dehydratase (PCBD1) | CSB-EP017514HU

Recombinant Human Pterin-4-alpha-carbinolamine dehydratase (PCBD1) | CSB-EP017514HU | Cusabio

Alternative Name(s): 4-alpha-hydroxy-tetrahydropterin dehydratase Dimerization cofactor of hepatocyte nuclear factor 1-alpha

Gene Names: PCBD1

Research Areas: Epigenetics and Nuclear Signaling

Organism: Homo sapiens (Human)

AA Sequence: AGKAHRLSAEERDQLLPNLRAVGWNELEGRDAIFKQFHFKDFNRAFGFMTRVALQAEKLDHHPEWFNVYNKVHITLSTHECAGLSERDINLASFIEQVAVSMT

Source: E.coli

Tag Info: N-terminal 6xHis-GST-tagged

Expression Region: 2-104aa

Sequence Info: Full Length of Mature Protein

MW: 41.9 kDa

Purity: Greater than 85% as determined by SDS-PAGE.

Relevance: Involved in tetrahydrobiopterin biosynthesis. Seems to both prevent the formation of 7-pterins and accelerate the formation of quinonoid-BH2. Coactivator for HNF1A-dependent transcription. Regulates the dimerization of homeodomain protein HNF1A and enhances its transcriptional activity.

Reference: "Phenylalanine hydroxylase-stimulating protein/pterin-4 alpha-carbinolamine dehydratase from rat and human liver. Purification, characterization, and complete amino acid sequence." Hauer C.R., Rebrin I., Thoeny B., Neuheiser F., Curtius H.-C., Hunziker P., Blau N., Ghisla S., Heizmann C.W. J. Biol. Chem. 268:4828-4831(1993)

Storage: The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself. Generally, the shelf life of liquid form is 6 months at -20?/-80?. The shelf life of lyophilized form is 12 months at -20?/-80?.

Notes: Repeated freezing and thawing is not recommended. Store working aliquots at 4? for up to one week.

Function: Involved in tetrahydrobiopterin biosynthesis. Seems to both prevent the formation of 7-pterins and accelerate the formation of quinonoid-BH2. Coactivator for HNF1A-dependent transcription. Regulates the dimerization of homeodomain protein HNF1A and enhances its transcriptional activity.

Involvement in disease: Hyperphenylalaninemia, BH4-deficient, D (HPABH4D)

Subcellular Location: Cytoplasm, Nucleus

Protein Families: Pterin-4-alpha-carbinolamine dehydratase family

Tissue Specificity:

Paythway:

Form: Liquid or Lyophilized powder

Buffer: If the delivery form is liquid, the default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol. If the delivery form is lyophilized powder, the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, pH 8.0.

Reconstitution: We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20?/-80?. Our default final concentration of glycerol is 50%. Customers could use it as reference.

Uniprot ID: P61457

HGNC Database Link: HGNC

UniGene Database Link: UniGene

KEGG Database Link: KEGG

STRING Database Link: STRING

OMIM Database Link: OMIM