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Gene: CBS (cystathionine beta-synthase) Homo sapiens
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Symbol: CBS
Name: cystathionine beta-synthase
Description: Exhibits several functions, including coenzyme binding activity; cystathionine beta-synthase activity; and heme binding activity. Involved in DNA protection; alpha-amino acid metabolic process; and hydrogen sulfide biosynthetic process. Localizes to the cytoplasm and nucleus. Implicated in coronary artery disease; homocystinuria; and neural tube defect.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: beta-thionase; CBSL; cystathionine beta synthase; cystathionine-beta-synthase; HIP4; methylcysteine synthase; serine sulfhydrase
Orthologs:
Mus musculus (house mouse) : Cbs (cystathionine beta-synthase)  MGI  Alliance
Rattus norvegicus (Norway rat) : Cbs (cystathionine beta synthase)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Cbs (cystathionine beta-synthase)
Pan paniscus (bonobo/pygmy chimpanzee) : CBS (cystathionine beta-synthase)
Canis lupus familiaris (dog) : CBS (cystathionine beta-synthase)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Cbs (cystathionine beta-synthase)
Sus scrofa (pig) : CBS (cystathionine beta-synthase)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382143,053,190 - 43,076,861 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372144,473,301 - 44,496,472 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362143,346,370 - 43,369,490 (-)NCBINCBI36hg18NCBI36
Build 342143,346,369 - 43,369,493NCBI
Celera2129,625,968 - 29,649,139 (-)NCBI
Cytogenetic Map21q22.3NCBI
HuRef2129,891,797 - 29,914,621 (-)NCBIHuRef
CHM1_12144,034,200 - 44,057,827 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression


Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on CBS
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 737316
Created: 2004-02-06
Species: Homo sapiens
Last Modified: 2019-11-26
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.