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Literature summary for 1.16.1.8 extracted from

  • Zhao, J.; Yang, X.; Gong, X.; Gu, Z.; Duan, W.; Wang, J.; Ye, Z.; Shen, H.; Shi, K.; Hou, J.; Huang, G.; Jin, L.; Qiao, B.; Wang, H.
    A functional variant in MTRR intron-1 significantly increases the risk of congenital heart disease in han Chinese population (2012), Circulation, 125, 482-490.
    View publication on PubMed
Search for more literature for 1.16.1.8

Cloned(Commentary)

Cloned (Comment) Organism
MTRR genotyping, quantitative real-time PCR enzyme expression analysis Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
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-
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Source Tissue

Source Tissue Comment Organism Textmining
heart in vivo quantitative real-time PCR analysis of MTRR mRNA in cardiac tissue samples from congenital heart disease patients, overview Homo sapiens
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Synonyms

Synonyms Comment Organism
Methionine synthase reductase
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 Homo sapiens
MTRR
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 Homo sapiens

Expression

Organism Comment Expression
Homo sapiens the c.56+781 A>C (rs326119) variant of intron-1 of MTRR significantly increases the risk of congenital heart disease in the Han Chinese population. The c.56+781 C allele profoundly decreases MTRR transcription down

General Information

General Information Comment Organism
malfunction the c.56+781 A>C (rs326119) variant of intron-1 of MTRR significantly increases the risk of congenital heart disease in the Han Chinese population and is highly related to septation defects. The c.56+781 C allele profoundly decreases MTRR transcription. Phenotype, overview Homo sapiens
physiological function methionine synthase reductase is essential for the adequate remethylation of homocysteine, which is the dominant pathway for homocysteine removal during early embryonic development Homo sapiens