GTX88689
GCH1 antibody, Internal
Cannot supply to this region.
- SKU:
- GTX88689
- Additional Names:
- GTP cyclohydrolase 1 , DYT14 , DYT5 , DYT5a , GCH , GTP-CH-1 , GTPCH1 , HPABH4B
- Application:
- WB
- Concentration:
- 0.50 mg/ml
- Physical State:
- Liquid
- Species Reactivity:
- Human
- Purification:
- Ammonium Sulfate Precipitated; Affinity Purified
- Storage Conditions:
- -20[o]C Aliquot. Avoid freeze/thaw cycles. Store undiluted., 2-8[o]C Aliquot. Avoid freeze/thaw cycles. Store undiluted., -20[o]C/-70[o]C Aliquot. Avoid freeze/thaw cycles. Store undiluted.
- Supplier:
- Genetex
- Host:
- Goat
- Reactivities:
- Human
- Buffer:
- TBS, 0.5% BSA, 0.02% Sodium azide.
- Immunogen:
- Peptide with sequence C-GKVHIGYLPNKQ, from the internal region of the protein sequence according to NP_000152.1 ; NP_001019195.1 ; NP_001019241.1 ; NP_001019242.1 .
- 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. [provided by RefSeq, Jul 2008]
- Shipping Conditions:
- Blue Ice