GCH1 Rabbit pAb (APR18218N)

Product Specifications

Background

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.

Overview

We constantly strive to ensure we provide our customers with the best antibodies. As a result of this work we offer this antibody in purified format. We are in the process of updating our datasheets. If you have any questions regarding this update, please feel free to contact our technical support team. This product is a high quality GCH1 Rabbit pAb (APR18218N) .

Synonyms

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

Gene ID

2643

UniProt

P30793

Cellular Locus

Cytoplasm, Nucleus

Dilution

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

Form

Liquid

Buffer

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

Molecular Weight

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

Storage Conditions

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.

Gene ID URL

https://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=2643

Uniprot URL

https://www.uniprot.org/uniprot/P30793

AA Sequence

MEKGPVRAPAEKPRGARCSNGFPERDPPRPGPSRPAEKPPRPEAKSAQPADGWKGERPRSEEDNELNLPNLAAAYSSILSSLGENPQRQGLLKTPWRAASAMQFFTKGYQETISDVLNDAIFDEDHDEMVIVKDIDMFSMCEHHLVPFVGKVHIGYLPNKQVLGLSKLARIVEIYSRRLQVQERLTKQIAVAITEALRPAGVGVVVEATHMCMVMRGVQKMNSKTVTSTMLGVFREDPKTREEFLTLIRS