SAB1410516

Anti-GCH1 antibody produced in rabbit

purified immunoglobulin, buffered aqueous solution

• Synonym(s): DYT14, DYT5, GCH, GTP-CH-1, GTPCH1
• UNSPSC Code: 12352203
• NACRES: NA.41

Properties

• biological source: rabbit
• Quality Level: 100
• conjugate: unconjugated
• antibody form: purified immunoglobulin
• antibody product type: primary antibodies
• clone: polyclonal
• form: buffered aqueous solution
• mol wt: antigen 27.9 kDa
• species reactivity: human
• technique(s): western blot: 1 μg/mL
• NCBI accession no.: NM_000161.2
• UniProt accession no.: P30793
• shipped in: dry ice
• storage temp.: −20°C
• target post-translational modification: unmodified
• Gene Information: human ... GCH1(2643)

Description

General description

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)

Immunogen

GCH1 (NP_000152.1, 1 a.a. ~ 250 a.a) full-length human protein.

Sequence
MEKGPVRAPAEKPRGARCSNGFPERDPPRPGPSRPAEKPPRPEAKSAQPADGWKGERPRSEEDNELNLPNLAAAYSSILSSLGENPQRQGLLKTPWRAASAMQFFTKGYQETISDVLNDAIFDEDHDEMVIVKDIDMFSMCEHHLVPFVGKVHIGYLPNKQVLGLSKLARIVEIYSRRLQVQERLTKQIAVAITEALRPAGVGVVVEATHMCMVMRGVQKMNSKTVTSTMLGVFREDPKTREEFLTLIRS

Physical form

Solution in phosphate buffered saline, pH 7.4

Safety Information

• Storage Class Code: 10 - Combustible liquids
• WGK: WGK 3
• Flash Point(F): Not applicable
• Flash Point(C): Not applicable