CBS

GENE INFORMATION

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Gene name

CBS (HGNC Symbol)

Synonyms

HIP4

Description

cystathionine-beta-synthase (HGNC Symbol)

Entrez gene summary

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. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2010]

Chromosome

21 (Chromosome progress)

Cytoband

q22.3

Chromosome location (bp)

44473301 - 44497053

Ensembl

ENSG00000160200 (version 73.37)

Entrez gene

875

UniProt

P35520 (UniProt - Evidence at protein level)

neXtProt

NX_P35520

Antibodypedia

CBS antibodies
 

PROTEIN VIEW

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CBS-001
 
CBS-002
 
CBS-003
 
CBS-004
 
CBS-007
 
CBS-014
 
CBS-015
 
CBS-016
 
CBS-201
 
CBS-202
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

CBS-001 ENSP00000344460
ENST00000352178
P35520
Show all »
Show » Show » 551 60.6 No 0
CBS-002 ENSP00000352643
ENST00000359624
P35520
Show all »
Show » Show » 551 60.6 No 0
CBS-003 ENSP00000381231
ENST00000398165
P35520
Show all »
Show » Show » 551 60.6 No 0
CBS-004 ENSP00000381225
ENST00000398158
P35520
Show all »
Show » Show » 551 60.6 No 0
CBS-007 ENSP00000388235
ENST00000441030
C9JMA6
Show all »
Show » Show » 177 19.1 No 0
CBS-014 ENSP00000405929
ENST00000430013
Show » 224 24.6 No 0
CBS-015 ENSP00000408014
ENST00000458223
Show » 159 16.9 No 0
CBS-016 ENSP00000402823
ENST00000451248
Show » 149 16 No 0
CBS-201 ENSP00000381234
ENST00000398168
P35520
Show all »
Show » Show » 565 61.9 No 0
CBS-202 ENSP00000439332
ENST00000544202
F5H2U1
Show all »
Show » Show » 463 51.2 No 0