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Gene : MTRR Homo sapiens

Name  ? 5-methyltetrahydrofolate-homocysteine methyltransferase reductase Cytological Location  5p15.31
Brief Description  5-methyltetrahydrofolate-homocysteine methyltransferase reductase
description  This gene encodes a member of the ferredoxin-NADP(+) reductase (FNR) family of electron transferases. This protein functions in the synthesis of methionine by regenerating methionine synthase to a functional state. Because methionine synthesis requires methyl-group transfer by a folate donor, activity of the encoded enzyme is important for folate metabolism and cellular methylation. Mutations in this gene can cause homocystinuria-megaloblastic anemia, cbl E type. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2015]
  • synonyms:
  • uc003jee.5,
  • MSR,
  • MTRR,
  • NM_002454,
  • cblE,
  • HGNC:7473,
  • AF025794,
  • cblE,
  • Methionine synthase reductase,
  • OTTHUMG00000090477
  • identifiers:
  • 4552,
  • ENSG00000124275,
  • MTRR

Genome feature

Region: gene ? Length: 49939  
Location: 5:7851186-7901124 Cyto location: 5p15.31


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Function

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Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

2 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

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Other

2011 SN Ps

5 Cross References

19 Data Sets

9 Homologues

0 Located Features

90 Rna Seq Results