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Gene : MTR Homo sapiens

Name  ? 5-methyltetrahydrofolate-homocysteine methyltransferase Cytological Location  1q43
Brief Description  5-methyltetrahydrofolate-homocysteine methyltransferase
description  This gene encodes the 5-methyltetrahydrofolate-homocysteine methyltransferase. This enzyme, also known as cobalamin-dependent methionine synthase, catalyzes the final step in methionine biosynthesis. Mutations in MTR have been identified as the underlying cause of methylcobalamin deficiency complementation group G. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014]
  • synonyms:
  • Methionine synthase,
  • uc001hyi.5,
  • HGNC:7468,
  • U73338,
  • OTTHUMG00000040060,
  • cblG,
  • cblG,
  • NM_000254,
  • MTR,
  • MS,
  • HMAG
  • identifiers:
  • 4548,
  • ENSG00000116984,
  • MTR

Genome feature

Region: gene ? Length: 109678  
Location: 1:236794304-236903981 Cyto location: 1q43


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Function

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

Gene --> GO terms.

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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

Gene --> GO terms.

 

Other

900 SN Ps

5 Cross References

20 Data Sets

4 Homologues

0 Located Features

90 Rna Seq Results