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Gene : CBS Homo sapiens

Name  ? cystathionine beta-synthase Cytological Location  21q22.3
Brief Description  cystathionine beta-synthase
Description  The protein encoded by this gene acts as a homotetramer to catalyze the conversion of homocysteine to cystathionine, the first step in the transsulfuration pathway. The encoded protein is allosterically activated by adenosyl-methionine and uses pyridoxal phosphate as a cofactor. Defects in this gene can cause cystathionine beta-synthase deficiency (CBSD), which can lead to homocystinuria. This gene is a major contributor to cellular hydrogen sulfide production. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2016]
  • synonyms:
  • CBSL,
  • CBS,
  • cystathionine-beta-synthase,
  • NM_000071,
  • HIP4,
  • uc002zcv.3,
  • OTTHUMG00000086834,
  • HIP4,
  • L14577,
  • HGNC:1550
  • identifiers:
  • 875,
  • ENSG00000160200,
  • CBS

Genome feature

Region: gene ? Length: 23672  
Location: 21:43053190-43076861 reverse strand Cyto location: 21q22.3

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Gene -> HPO annotation (Human Phenotype Ontology)

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1 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.



3753 SN Ps

5 Cross References

20 Data Sets

10 Homologues

0 Located Features

97 Rna Seq Results