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Validated All-in-One™ qPCR Primer for CTH(NM_001902.5) Search again
By 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:
Summary
This gene encodes a cytoplasmic enzyme in the trans-sulfuration pathway that converts cystathione derived from methionine into cysteine. Glutathione synthesis in the liver is dependent upon the availability of cysteine. Mutations in this gene cause cystathioninuria. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq].
Gene References into function
- two nonsense mutations, namely exon 8 c.940-941delCT and exon 11 c.1220delC, and two missense mutations, namely exon 2 c.356C>T (T67I) and exon 7 c.874C>G (Q240E)were found in four probands with cystathioninuria
- Cystathionine gamma-lyase has a role in regulating cell proliferation via a H2S-dependent modulation of ERK1/2 phosphorylation and p21Cip/WAK-1
- Mutations weaken the affinity for pyridoxal-5-phosphate and suggest that cystathionuric patients with these mutations should be responsive to pyridoxine therapy.
- The present study suggests that the SNPs rs482843 and rs1021737 of the CTH gene were not associated with essential hypertension in the Northern Chinese Han population.
- porphyrin moiety of the heme plays a critical role in proper CBS folding and assembly, but the metal ion is not essential for this function or for allosteric regulation by S-adenosyl-L-methionine
