A10616
GCH1 Rabbit polyclonal antibody
Size
£152.00
- SKU:
- A10616
- Additional Names:
- DYT14|DYT5|DYT5a|GCH|GCH1|GTP-CH-1|GTPCH1|HPABH4B
- Application:
- ELISA, WB, IF, ICC
- Molecular Weight:
- 28kDa
- Species Reactivity:
- Human
- Purification:
- Affinity Purified
- Storage Conditions:
- -20[o]C Avoid freeze/thaw cycles.
- Supplier:
- Abclonal
- Host:
- Rabbit
- Reactivities:
- Human, Mouse, Rat
- Immunogen:
- Recombinant protein (or fragment).This information is considered to be commercially sensitive.
- Formulation:
- Unmodified
- Sequence:
- GERPRSEEDNELNLPNLAAAYSSILSSLGENPQRQGLLKTPWRAASAMQFFTKGYQETISDVLNDAIFDEDHDEMVIVKDIDMFSMCEHHLVPFVGKVHIGYLPNKQVLGLSKLARIVEIYSRRLQVQERLTKQIAVAITEALRPAGVGVVVEATHMCMVMRGVQKMNSKTVTSTMLGVFREDPKTREEFLTLIRS
- Uniprot:
- P30793
- Synonyms:
- dystonia 14;DYT14;DYT5;DYT5a;GCH;GTP cyclohydrolase 1;GTP cyclohydrolase I;GTP-CH-1;GTP-CH-I;GTPCH1;guanosine 5'-triphosphate cyclohydrolase I;HPABH4B
- Extra Details:
- 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.
- Shipping Conditions:
- Blue Ice