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Gene : BHMT Homo sapiens

Name  ? betaine--homocysteine S-methyltransferase Cytological Location  5q14.1
Brief Description  betaine--homocysteine S-methyltransferase
Description  This gene encodes a cytosolic enzyme that catalyzes the conversion of betaine and homocysteine to dimethylglycine and methionine, respectively. Defects in this gene could lead to hyperhomocyst(e)inemia, but such a defect has not yet been observed. [provided by RefSeq, Jul 2008]
  • synonyms:
  • BHMT,
  • uc003kfu.5,
  • HEL-S-61p,
  • betaine homocysteine methyltransferase,
  • BHMT1,
  • OTTHUMG00000108157,
  • BC012616,
  • BHMT1,
  • NM_001713,
  • HGNC:1047
  • identifiers:
  • 635,
  • ENSG00000145692,
  • BHMT

Genome feature

Region: gene ? Length: 20480  
Location: 5:79111809-79132288 Cyto location: 5q14.1

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Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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0 Diseases

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

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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

Gene Ontology

Gene --> GO terms.



3740 SNPs

5 Cross References

16 Data Sets

3 Homologues

0 Located Features

97 Rna Seq Results