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Validated All-in-One™ qPCR Primer for GLDC(NM_000170.2) Search again
Powered by BiozBy default, qPCR primer pairs are designed to measure the expression level of the splice variant (accession number) you selected for this gene WITHOUT consideration of other possible variants of this gene. If this gene has multiple variants, and you would like to measure the expression levels of one particular variant, multiple variants, or all variants, please contact us for a custom service project at inquiry@genecopoeia.com.
Validated result:
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Each All-in-One™ qPCR Primer is experimentally validated to yield a single dissociation curve peak and to generate a single amplification of the correct size for the targeted gene. A cDNA Pool, containing reverse transcript products of 8 different human tissue total RNA(Liver, Testis,Muscle,Thyroid,Brain,Spleen,Stomach,Small Intestine)),was used as the qPCR validation template. qPCR was performed using 0.2 µM primer with 2XAll-in-One™ qPCR Mix (Catalog#: QP001,QP002,QP004,QP005). Reactions were incubated for 10min. at 95°C, followed by 40 cycles of 95°C for 10 sec.; 60°C, 20 sec. and 72°C, 15sec. using Bio-Rad iQ5™ Instrument. At the end of the last cycle, temperature was increased from 72 to 95°C to produce a melting curve. Panel A: Validated Result for Amplification Curve; Panel B: Validated Result for Melting Curve. |
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Summary
The enzyme system for cleavage of glycine (glycine cleavage system; GCS; EC 2.1.2.10), which is confined to the mitochondria, is composed of 4 protein components: P protein (a pyridoxal phosphate-dependent glycine decarboxylase), H protein (a lipoic acid-containing protein), T protein (a tetrahydrofolate-requiring enzyme), and L protein (a lipoamide dehydrogenase). Glycine encephalopathy (GCE; MIM 605899) may be due to a defect in any one of these enzymes; see MIM 238310, MIM 238330, and MIM 238331.[supplied by OMIM].
Gene References into function
- Heterozygous GLDC gene mutation in transient neonatal hyperglycinemia.
- Missense and nonsense mutations found in glycine encephalopathy
- Three adults with mild hyperglycinemia, infantile hypotonia, mental retardation, behavioral hyperirritability, and aggressive outbursts were screened for glycine decarboxylase mutations; two novel missense mutations were found.
- The mutation in this nonketotic hyperglycinemia kindred led to missplicing and reduced GLDC (glycine decarboxylase) expression.
- Single nucleotide substitution that abolishes the initiator methionine codon of the GLDC gene is associated with glycine encephalopathy
- the nonketotic hyperglycinemia is due to a novel GLDC mutation.
- forty different gene alterations in the GLDC gene were identified in patients with glycine encephalopathy
- A screening system for GLDC deletions by multiplex ligation-dependent probe amplification identified 14 deletions of different length & Alu-mediated recombination in non-ketotic hyperglycinaemia patients.
- a histidine-to-aspartic acid change at amino acid position 371 (p. His371Asp mutation) in the glycine decarboxylase in a non-ketotic hyperglycemia patient.