Home > Specialties > Reagents, Molecular Assay, Gene Anomaly, Mutation, GCH1

Reagents, Molecular Assay, Gene Anomaly, Mutation, GCH1

Definition : Molecular assay reagents intended to identify mutations in the guanosine triphosphate cyclohydrolase 1 (GCH1) gene, located at chromosome 14q22.1-q22.2, which encodes for the enzyme guanosine triphosphate (GTP) cyclohydrolase, important in the manufacture of tetrahydrobiopterin (BH4). BH4 is essential for the normal function of several enzymes. Mutations at this locus have been identified in more than half of patients with early childhood onset of a severe form of dystonia type 5 (DYT5).

Entry Terms : "Cyclohydrolase 1 (GTPCH1) Deficiency Dystonia Gene Mutation Detection Reagents" , "Guanosine Triphosphate Gene Mutation Detection Reagents" , "Sagawa Disease Gene Mutation Detection Reagents" , "Hereditary Progressive Dystonia Gene Mutation Detection Reagents" , "Dystonia-Parkinsonism Gene Mutation Detection Reagents" , "Dystonia Type 5 (DYT5) Gene Mutation Detection Reagents" , "Dopa responsive Dystonia (DRD) Gene Mutation Detection Reagents" , "GCH1 Gene Mutation Detection Reagents"

UMDC code : 24440


1-7 of 7 Match(es).

Applied Biosystems

Our newly expanded portfolio of market-leading lab services can provide your high-performance lab with a comprehensive suite of services, or just the ones you want. From business consulting and protocol development, to instrument repair and optimization, our services can help you increase your lab's productivity and efficiency.

Focus Diagnostics Inc

As part of the Quest Diagnostics family, Focus Diagnostics, Inc. is committed to providing proven and reliable products its customers have grown accustomed to throughout the years. Since its founding in 1978, Focus Diagnostics has grown its business from specialized laboratory testing to manufacturing its high-quality laboratory tests for hospitals and commercial laboratories worldwide. These manufactured tests are built in response to diagnostic testing trends identified and evaluated by Focus Diagnostics and used in Quest Diagnostics' national laboratories.

Gen-Probe Inc

Gen-Probe is a global leader in the development, manufacture and marketing of rapid, accurate and cost-effective molecular diagnostic products and services that are used primarily to diagnose human diseases, screen donated human blood, and ensure transplant compatibility.

Gen-Probe Life Sciences Ltd

Gen-Probe Life Sciences Ltd

HyTest Ltd

HyTest Ltd

Innogenetics Inc

Innogenetics NV is an international diagnostic company that develops and markets diagnostic products to improve therapy management and patient health.


QIAGEN is the leading global provider of sample and assay technologies. Sample technologies are used to isolate and process DNA, RNA, and proteins from biological samples such as blood or tissue. Assay technologies are used to make such isolated biomolecules, such as the DNA of a specific virus, visible for subsequent analysis.

1-7 of 7 Match(es).


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