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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:
  • betaine homocysteine methyltransferase,
  • BHMT1,
  • BC012616,
  • BHMT1,
  • uc003kfu.5,
  • HEL-S-61p,
  • BHMT,
  • HGNC:1047,
  • NM_001713,
  • OTTHUMG00000108157
  • identifiers:
  • 635,
  • ENSG00000145692,
  • BHMT

Genome feature

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


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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

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]

Homology

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Interactions

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Gene --> Physical and Genetic Interactions

Expression

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

Gene Ontology

Gene --> GO terms.

 

Other

3756 SN Ps

5 Cross References

17 Data Sets

4 Homologues

0 Located Features

97 Rna Seq Results