Product info:

This gene encodes a member of the GTP cyclohydrolase family. The encoded protein is the first and rate-limiting enzyme in tetrahydrobiopterin (BH4) biosynthesis, catalyzing the conversion of GTP into 7,8-dihydroneopterin triphosphate. BH4 is an essential cofactor required by aromatic amino acid hydroxylases as well as nitric oxide synthases. Mutations in this gene are associated with malignant hyperphenylalaninemia and dopa-responsive dystonia. Several alternatively spliced transcript variants encoding different isoforms have been described; however, not all variants give rise to a functional enzyme.

Alternative names:

GCH1; DYT14; DYT5; DYT5a; GCH; GTP-CH-1; GTPCH1; HPABH4B

Species reactivity:

Human, Mouse, Rat

Host:

Rabbit

Cellular localisation:

Cytoplasm, Nucleus

Isotype:

IgG

Immunogen:

Recombinant fusion protein containing a sequence corresponding to amino acids 1-250 of human GCH1 (NP_000152.1).

Positive control:

THP-1, Mouse liver, Mouse brain, Mouse spleen, Rat lung, Rat liver

AA Sequence:

MEKGPVRAPAEKPRGARCSNGFPERDPPRPGPSRPAEKPPRPEAKSAQPADGWKGERPRSEEDNELNLPNLAAAYSSILSSLGENPQRQGLLKTPWRAASAMQFFTKGYQETISDVLNDAIFDEDHDEMVIVKDIDMFSMCEHHLVPFVGKVHIGYLPNKQVLGLSKLARIVEIYSRRLQVQERLTKQIAVAITEALRPAGVGVVVEATHMCMVMRGVQKMNSKTVTSTMLGVFREDPKTREEFLTLIRS

Purification:

Affinity purification

Molecular weight:

Calculated MW: 23kDa/25kDa/27kDa Observed MW: 28KDa

Form:

Liquid

Applications:

Request info at info@sobekbio.com

Dilution:

WB 1:500 - 1:2000 IF 1:50 - 1:200

Storage buffer:

Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.

Storage:

Store at 4°C short term. For long-term storage, aliquot and store at -20°C or below. Stable for 12 months at -20°C. Avoid repeated freeze-thaw cycles.

More info:

Email: info@sobekbio.com

Orders:

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