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CBS Gene

protein-coding GIFtS: 75

GC21M043346

cystathionine-beta-synthase
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase, and/or ⁹Nature:405,311-319 and CroW21)
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Aliases
Beta-thionase ^³
EC 4.2.1.22 ^³
HIP4 ^¹, ²
OTTHUMP00000109416 ^²
OTTHUMP00000109418 ^²
beta-thionase ^²
cystathionine-beta-synthase ^²

Descriptions
Serine sulfhydrase ^², ³
cystathionine beta-synthase ^²
human cystathionine-beta-synthase, EC 4.2.1.22 ⁹
methylcysteine synthase ^²

External Ids
HGNC: 1550¹
Entrez Gene: 875²
UniProtKB: P35520³
Ensembl: ENSG00000160200⁷

Search outside databases for aliases for CBS gene

Previous GC identifers: GC21M041021 GC21M043367

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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EntrezGene summary for CBS:

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. [provided by RefSeq]

Gene Wiki entry for CBS (Cystathionine_beta_synthase)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences, Whole Chromsome Sequence According to Nature (Cited Here with Permission):405,311-319 and CroW21)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 21q22.3 Ensembl cytogenetic band: 21q22.3 HGNC cytogenetic band: 21q22.3
Nature(405: 311-319) cytogenetic band: 21q22.3

CBS Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 21 GeneLoc Exon Structure

(about GC identifiers)

GC21M043346:	GeneLoc	Nature:405,311-319
Start:	43,346,370 bp from pter	30,020,629 bp from centromere
End:	43,369,541 bp from pter	30,035,840 bp from centromere
Size:	23,172 bases	15,212 bases
Orientation:	minus strand	minus strand

RefSeq DNA sequence:

NC_000021.7 NT_030188.4

Whole chromosome sequencing:
cDNA sequence:	L00972
genomic clones:	KB1151C12 KB2007G4

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: CBS_HUMAN, P35520 (See protein sequence)

Recommended Name: Cystathionine beta-synthase

Size: 551 amino acids; 60587 Da

Cofactor: Pyridoxal phosphate

Subunit: Homotetramer

Subcellular location: Cytoplasm. Nucleus

PDB structure from and Proteopedia :

1JBQ (3D)

1M54 (3D)

Secondary accessions: Q99425 Q9BWC5

Alternative splicing: 2 isoforms: P35520-1 P35520-2

REFSEQ proteins: NP_000062.1

ENSEMBL proteins:

ENSP00000381225 ENSP00000352643 ENSP00000381231 ENSP00000381234 ENSP00000344460

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (CBS)
	Human Recombinant Proteins from Abnova (CBS)

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

4 Gene Ontology (GO) cellular component terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IEA	--
GO:0005730	nucleolus	IDA	18029348
GO:0005737	cytoplasm	IEA	--
GO:0005829	cytosol	IDA	16780588

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Antibodies for CBS:

	Browse Antibodies Central at Invitrogen
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Sigma-Aldrich Antibodies for CBS
	Browse R&D Systems for Antibodies
	Antibodies from Abcam (CBS), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (CBS)
	Novus Biologicals Antibodies for CBS

Assays for CBS:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

Graphical View of Domain Structure for InterPro Entry P35520

ProtoNet protein and cluster: P35520

2 Blocks protein families:

IPB000644 CBS domain

IPB001926 Pyridoxal-5'-phosphate-dependent enzyme

UniProtKB/Swiss-Prot: CBS_HUMAN, P35520

Similarity: Belongs to the cysteine synthase/cystathionine beta-synthase family

Similarity: Contains 1 CBS domain

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (CBS)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (CBS)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000071

Applied Biosystems Silencer® siRNAs for CBS

Sigma-Aldrich siRNA and siRNA Panels for CBS

Sigma-Aldrich shRNA for CBS

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Invitrogen Clones for CBS
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clone in CMV expression vector: NM_000071
Myc/DDK tagged cDNA clone in CMV expression vector: NM_000071
untagged cDNA clones in CMV expression vector (see all 2): NM_000071

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_000071

UniProtKB/Swiss-Prot: CBS_HUMAN, P35520

Catalytic activity: L-serine + L-homocysteine = L-cystathionine + H(2)O

Enzyme regulation: Allosterically activated by adenosyl-methionine (AdoMet)

Enzyme Number (IUBMB): EC 4.2.1.22

Genatlas biochemistry entry for CBS:

cystathionine beta synthase gene with several transcripts,alternatively spliced in 5',sulfur

aminoacid metabolism,susceptibility gene to neural tube defect in association with MTHFR,no

evidence of association with NTD in Netherlands and U.K.,interacting with huntingtin

15/20 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Cbs) (see all 20 ):

	cellular	craniofacial	embryogenesis	endocrine/exocrine gland
growth/size	hematopoietic system	homeostasis/metabolism	immune system	lethality-postnatal
lethality-prenatal/perinatal	life span-post-weaning/aging	limbs/digits/tail	liver/biliary system	renal/urinary system

5 Gene Ontology (GO) molecular function terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004122	cystathionine beta-synthase activity	TAS	9590298
GO:0005506	iron ion binding	IEA	--
GO:0016829	lyase activity	IEA	--
GO:0030170	pyridoxal phosphate binding	IEA	--
GO:0046872	metal ion binding	IEA	--

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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3 Sigma-Aldrich "Your Favorite Gene" Pathways for CBS (Your Favorite Gene powered by Ingenuity)

Glycine, Serine and Threonine Metabolism
Methionine Metabolism
Selenoamino Acid Metabolism

GeneDecks CBS for the pathways selected above

About GeneDecksing

UniProtKB/Swiss-Prot: CBS_HUMAN, P35520

Pathway: Amino-acid biosynthesis; L-cysteine biosynthesis; L-cysteine from L-homocysteine and

L-serine: step 1/2

Gene Network Central^TM Interacting Genes and Proteins Network for CBS

5/40 Interacting proteins for CBS (P35520² ENSP00000344460³) via UniProtKB, MINT, and/or STRING (see all 40 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CBS	P35520²	MINT-68447
FXR2	P51116²	MINT-66773
VTA1	Q9NP79²	MINT-66058
CTH	ENSP00000359976³	STRING (score=.998)
MTR	ENSP00000355535³	STRING (score=.995)

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5 Gene Ontology (GO) biological process terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006535	cysteine biosynthetic process from serine	IEA	--
GO:0008152	metabolic process	IEA	--
GO:0008652	amino acid biosynthetic process	IEA	--
GO:0019343	cysteine biosynthetic process via cystathionine	IEA	--
GO:0043506	regulation of JUN kinase activity	IEA	--

About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for CBS
10/40 Novoseek chemical compound relationships for CBS gene (see all 40 )

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
cystathionine	99.18	952	10052944 (7), 2011158 (5), 11042162 (4), 11742888 (4) (see all 99)
homocysteine	94.41	381	17971175 (5), 9357926 (4), 10363126 (4), 12529702 (4) (see all 99)
methionine	87.82	211	8134195 (3), 17937607 (3), 10954028 (2), 11216902 (2) (see all 99)
s-adenosylmethionine	81.93	79	16614071 (5), 11524006 (4), 8755636 (4), 16953589 (4) (see all 32)
s-adenosylhomocysteine	74.86	3	17336565 (1), 17360897 (1), 17937607 (1)
5-methyltetrahydrofolate	68.01	3	10487496 (1), 10758367 (1), 15354395 (1)
sulfur	59.87	26	18937169 (2), 19200371 (2), 9928444 (1), 15890029 (1) (see all 11)
5,10-methenyltetrahydrofolate	59.40	1	15503105 (1)
o-acetylserine	48.17	1	11483494 (1)
methylmalonic acid	44.72	4	15319318 (1)

About this table

1 PharmGKB drug compound relationship for CBS gene

Drug compound	PharmGKB Relations	PubMed IDs for articles supporting these relationships
pyridoxine	PD FA GN	12124992

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (CBS)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (CBS)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000071

Sigma-Aldrich siRNA and siRNA Panels for CBS

Sigma-Aldrich shRNA for CBS

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_000071

REFSEQ mRNAs for CBS gene:

NM_000071.2

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_000071

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000071
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_000071
                                 untagged cDNA clones in CMV expression vector (see all 2): NM_000071

Additional cDNA sequence:

AK294608.1 AK301063.1 AK313691.1 AL137314.1 BC000440.2 BC007257.1 BC010242.1 BC011381.1

BC012319.1 BT007154.1 CR605513.1 CR613114.1 CR624541.1 L00972.1 L14577.1 L19501.1

X82166.1

21 DOTS entries:

DT.452726 DT.100810615 DT.97859672 DT.100810602 DT.100810619 DT.121131733 DT.121131732 DT.100810621

DT.70103884 DT.121131710 DT.121131727 DT.75182069 DT.95149090 DT.100810612 DT.100810614 DT.121131709

DT.91646095 DT.95149085 DT.97859673 DT.99995100 DT.121131717

24/312 AceView cDNA sequences (see all 312 ):

CR605513 BM471614 AW071777 BU552809 BE252944 CB162041 BU508699 BQ691794

AL522542 D16995 BQ720498 CA446196 CD674556 BM478198 BE898248 BI793125

AI668772 BQ051298 AI494305 CR613114 BE297756 BX117844 AI494295 AI368618

highest scoring ESTs for CBS:

BC007257 L00972 L19501 AA057541 AA057714 AA063180 AA063294 AA136339 AA136426 AA171511

Unigene Cluster for CBS:

Cystathionine-beta-synthase

Hs.533013 [show with all ESTs]

Unigene Representative Sequence: L00972

GeneLoc Exon Structure

5/18 Alternative Splicing Database (ASD) splice patterns (SP) for CBS (see all 18 )

ExUns:	1	^	2a	·	2b	·	2c	^	3a	·	3b	·	3c	·	3d	·	3e	^	4a	·	4b	·	4c	·	4d	^	5	^	6a	·	6b	·	6c	^	7a	·	7b	^	8a	·	8b	^	9	^	10	^	11	^	12a	·	12b	^
SP1:									-		-		-		-		-		-														-		-		-												-
SP2:									-		-		-		-		-		-														-		-		-												-
SP3:																	-		-														-		-		-												-
SP4:																	-		-		-		-										-		-		-												-
SP5:																																																	-

ExUns:	13a	·	13b	^	14a	·	14b	^	15a	·	15b	·	15c	·	15d	^	16a	·	16b	·	16c	^	17	^	18	^	19	^	20	^	21a	·	21b	·	21c	^	22a	·	22b	·	22c
SP1:	-						-								-		-												-
SP2:	-						-								-		-												-
SP3:	-						-								-		-												-
SP4:	-						-								-		-												-
SP5:	-						-								-		-												-

About this scheme

ECgene alternative splicing isoforms for CBS

5 Ensembl transcripts including schematic representations:

ENST00000398158 ENST00000359624 ENST00000398165 ENST00000398168 ENST00000352178

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

CBS expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for CBS

¹ / ² / ³

4 probe-sets matching CBS gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
38474_at²^{, 3}	U95-A	1	1.00	1.00	1.00	1.00	L00972	0.80	1.00	0.91	1
212816_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	BE613178	0.60	1.00	0.82	1
1553972_a_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
212816_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

GeneDecks CBS for binary patterns associated with the probe-sets selected above

About GeneDecksing

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Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: GCTTCCTAAA

SOURCE GeneReport for Unigene cluster: Hs.533013
Expression variation in blood from EXPOLDB for CBS
UniProtKB/Swiss-Prot: CBS_HUMAN, P35520
Tissue specificity: In the adult strongly expressed in liver and pancreas, some expression in heart
and brain, weak expression in lung and kidney. In the fetus, expressed in brain, liver and kidney

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for CBS gene from 5/20 species (see all 20 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	CBS¹	--	cystathionine-beta-synthase	86.16(n) 86.91(a)	611071 XM_848703.1 XP_853796.1
chimpanzee (Pan troglodytes)	CBS¹	--	cystathionine-beta-synthase	99.27(n) 99.27(a)	736626 XM_001142443.1 XP_001142443.1
cow (Bos taurus)	CBS¹	--	cystathionine-beta-synthase	87.54(n) 87.11(a)	514525 XM_592392.3 XP_592392.2
rat (Rattus norvegicus)	Cbs¹	--	cystathionine beta synthase	82.69(n) 84.28(a)	24250 NM_012522.1 NP_036654.1
mouse (Mus musculus)	Cbs⁵ Cbs¹	17 (17.40 cM)⁵	cystathionine beta-synthase^{1, 5}	82.72(n)¹ 84.8(a)¹	12411¹ NM_178224.2¹ NP_835742.1¹ AC084065⁵ AI047524⁵ (see all 22)

About this table Species with no ortholog for CBS

ENSEMBL Gene Tree for CBS

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/234 NCBI SNPs in CBS are shown (see all 234 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 106)

AB	SNP ID	Valid	Chr 21 pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--				--
--	rs706208^1,2	A,C,F,H	43346515(-)	`CGTTCT/CGGAAC`	1	--	ut3¹		13		MN NA EA EU WA	1214
--	rs706209^1,2	A,C,F,H	43346494(-)	`cacccC/Tgtgaa`	1	--	ut3¹ ese³		8		MN EU EA WA NA	720
	rs1788484^1,2	A,C,F,H	43370010(+)	`CGATGC/TTCCGC`	1	--	ng3¹		5		MN EU EA WA	600
	rs12613^1,2	A,C,F,H	43346760(-)	`ACTGCG/ACAGAG`	1	--	ut3¹ ese³		13		MN CSAM EA EU WA NA	1148
	rs1051319^1,2	A,C,F,H	43346936(-)	`CTGCAC/GACGGC`	1	--	ut3¹		9		NA EU EA WA	637
	rs11700748^1,2	C,F,H	43346131(+)	`acacaC/Tccaag`	1	--	ng5¹		4		EU EA WA	410
	rs11700812^1,2	C,H	43353659(+)	`CGCAGC/G/TGCTGG`	2	R/H R/P	mis¹ ese³		9		EU EA WA MN CSAM	826
--	rs34040148^1,2	C,F	43361700(-)	`GCCTGA/CAGTGT`	1	K/Q	mis¹		5		NA EU EA WA	496
	rs2244171^1,2	C	43369663(+)	`CCCGAG/TCCGAG`	1	--	ng3¹		0	--	--	--	--
--	rs4987122^1,2	F	43346763(-)	`ATGACT/CGCRCA`	1	--	ut3¹ ese³		5		MN CSAM EA	408

About this table

HapMap Linkage Disequilibrium images for CBS (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 236200

UniProtKB/Swiss-Prot: CBS_HUMAN, P35520

Defects in CBS are the cause of cystathionine beta-synthase deficiency (CBSD)

[MIM:236200]. It is a recessively inherited error of sulfur amino acid metabolism leading to

homocystinuria. Homocystinuria is associated with elevated levels of homocysteine in the blood

(homocysteinemia) [MIM:603174]. Patients with homocystinuria have also methionine in their body

fluid and usually benefit from dietary and pharmacological treatment (high doses of pyridoxine and

vitamin B6). Other characteristics are dislocated optic lenses, vascular disorders

(arteriosclerosis and thrombosis), skeletal abnormalities, and mental retardation

10/62 Novoseek disease relationships for CBS gene (see all 62 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
homocystinuria	97.47	230	8744616 (4), 11338767 (3), 14744647 (3), 12007221 (3) (see all 99)
hyperhomocysteinemia	91.90	82	2011158 (4), 15386278 (3), 18987302 (2), 16375773 (2) (see all 49)
hypermethioninemia	86.85	6	12765841 (1), 10674710 (1), 15972722 (1)
homocysteinemia	81.59	6	9587026 (1), 2407253 (1), 1445498 (1), 8364009 (1) (see all 5)
ectopia lentis	81.50	2	11596648 (1), 10564686 (1)
vascular diseases	75.11	35	2011158 (3), 11216902 (2), 9712328 (2), 9848890 (2) (see all 23)
folate deficiency	72.26	8	2007933 (1), 11569694 (1), 16575899 (1), 8364009 (1) (see all 6)
neural tube defects	66.66	5	9712534 (1), 10517251 (1), 12725044 (1), 9084933 (1)
down syndrome	60.57	27	11391481 (2), 16541333 (2), 16115349 (1), 11415440 (1) (see all 12)
mental retardation	57.46	11	11596648 (1), 14744647 (1), 16160063 (1), 16274669 (1) (see all 8)

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2 PharmGKB disease relationships for CBS gene

Disease	PharmGKB Relations	PubMed IDs for articles supporting these relationships
Homocystinuria	PD FA GN	12124992
Hyperhomocysteinemia	GN	10704624 10704624

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Genatlas disease: CBS

homocystinuria,pyridoxine responsive or not responsive forms,neural tube defect,no evidence of

association with NTD in Netherlands and U.K.,interacting with huntingtin

GeneTests: CBS

Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency

Human Gene Mutation Database: CBS
Genetic Association Database: CBS
Human Genome Epidemiology Navigator: CBS (116 documents)

(Possibly Related Articles in Doctor's Guide)
About This Section

Baxter Receives Health Canada Approval for Advate(R) [Antihemophilic Factor (Recombinant)

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
About This Section

40/508 PubMed articles for CBS gene (see all 508 ):

The human cystathionine beta-synthase (CBS) gene: complete sequence, alternative splicing, and polymorphisms. (PubMed id 9790750)^{1, 2, 3, 4} Kraus J.P.... Kozich V. (1998)
A missense mutation (I278T) in the cystathionine beta-synthase gene prevalent in pyridoxine-responsive homocystinuria and associated with mild clinical phenotype. (PubMed id 7611293)^{1, 3, 4, 6} Shih V.E.... Ramesh V. (1995)
The molecular basis of cystathionine beta-synthase deficiency in Australian patients: genotype-phenotype correlations and response to treatment. (PubMed id 12124992)^{3, 4, 7} Gaustadnes M.... Wilcken D.E. (2002)
High homocysteine and thrombosis without connective tissue disorders are associated with a novel class of cystathionine beta-synthase (CBS) mutations. (PubMed id 12007221)^{1, 3, 4} Maclean K.N.... Kraus J.P. (2002)
Human cystathionine beta-synthase is a target for sumoylation. (PubMed id 17087506)^{1, 3, 4} Kabil O.... Banerjee R. (2006)
A 31 bp VNTR in the cystathionine beta-synthase (CBS) gene is associated with reduced CBS activity and elevated post-load homocysteine levels. (PubMed id 11528503)^{1, 3, 6} Lievers K.J....Blom H.J. (2001)
Cystathionine beta-synthase polymorphisms and hyperhomocysteinaemia: an association study. (PubMed id 12529702)^{1, 3, 6} Lievers K.J....Blom H.J. (2003)
A yeast assay for functional detection of mutations in the human cystathionine beta-synthase gene. (PubMed id 8528202)^{1, 3, 4} Kruger W.D. and Cox D.R. (1995)
Identical genotypes in siblings with different homocystinuric phenotypes: identification of three mutations in cystathionine beta- synthase using an improved bacterial expression system. (PubMed id 7981678)^{1, 3, 4} de Franchis R.... Kraus J.P. (1994)
A yeast system for expression of human cystathionine beta-synthase: structural and functional conservation of the human and yeast genes. (PubMed id 8022826)^{1, 3, 4} Kruger W.D. and Cox D.R. (1994)
The cystathionine beta-synthase (CBS) mutation c.1224-2A>C in Central Europe: Vitamin B6 nonresponsiveness and a common ancestral haplotype. (PubMed id 15365998)^{1, 3, 4} Linnebank M....Koch H.G. (2004)
Spectrum of CBS mutations in 16 homocystinuric patients from the iberian peninsula: high prevalence of T191M and absence of I278T or G307S. (PubMed id 12815602)^{1, 3, 4} Urreizti R....Grinberg D. (2003)
Plasma homocysteine, MTHFR C677T, CBS 844ins68bp, and MTHFD1 G1958A polymorphisms in spontaneous cervical artery dissections. (PubMed id 15503105)^{1, 3, 6} Konrad C....Junker R. (2004)
CBS 844ins68, MTHFR TT677 and EPCR 4031ins23 genotypes in patients with deep-vein thrombosis. (PubMed id 12413583)^{1, 3, 6} Grossmann R....Walter U. (2002)
Analysis of CBS alleles in Czech and Slovak patients with homocystinuria: report on three novel mutations E176K, W409X and 1223 + 37 del99. (PubMed id 9266356)^{3, 4} Kozich V.... Elleder D. (1997)
Linkage disequilibrium at the cystathionine beta synthase (CBS) locus and the association between genetic variation at the CBS locus and plasma levels of homocysteine. The Ears II Group. European Atherosclerosis Research Study. (PubMed id 10363126)^{1, 6} De Stefano V....Gudnason V. (1998)
Identification and functional analysis of two novel mutations in the CBS gene in Polish patients with homocystinuria. (PubMed id 15146473)^{1, 4} Orendac M.... Kozich V. (2004)
Polymorphisms in the CBS gene associated with decreased risk of coronary artery disease and increased responsiveness to total homocysteine lowering by folic acid. (PubMed id 10833331)^{1, 6} Kruger W.D....Upson B. (2000)
A CBS haplotype and a polymorphism at the MSR gene are associated with cardiovascular disease in a Spanish case-control study. (PubMed id 17553479)^{1, 3} Urreizti R....Balcells S. (2007)
The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America. (PubMed id 16479318)^{1, 3} Urreizti R....Grinberg D. (2006)
Mutations in the genes regulating methylene tetrahydrofolate reductase (MTHFR C-->T677) and cystathione beta-synthase (CBS G-->A919, CBS T-->c833) are not associated with myocardial infarction in African Americans. (PubMed id 11457468)^{1, 3} Dilley A....Evatt B.L. (2001)
Polymorphisms in the CBS gene and homocysteine, folate and vitamin B12 levels: association with polymorphisms in the MTHFR and MTRR genes in Brazilian children. (PubMed id 18792976)^{1, 3} Alessio A.C....Annichino-Bizzacchi J.M. (2008)
High prevalence of CBS p.T191M mutation in homocystinuric patients from Colombia. (PubMed id 16470595)^{1, 3} Bermudez M....Kraus J.P. (2006)
Interactions between the single nucleotide polymorphisms in the homocysteine pathway (MTHFR 677C>T, MTHFR 1298 A>C, and CBSins) and the efficacy of HMG-CoA reductase inhibitors in preventing cardiovascular disease in high-risk patients of hypertension: the GenHAT study. (PubMed id 18622257)³ Maitland-van der Zee A.H....Eckfeldt J.H. (2008)
[CBS gene variations and serum homocysteine level associated with congenital heart defects] (PubMed id 18839533)³ Zhu W....Dao J. (2008)
Association of a 31 bp VNTR in the CBS gene with postload homocysteine concentrations in the Framingham Offspring Study. (PubMed id 16791140)³ Lievers K.J....Ordovas J.M. (2006)
Plasma homocysteine concentration, C677T MTHFR genotype, and 844ins68bp CBS genotype in young adults with spontaneous cervical artery dissection and atherothrombotic stroke. (PubMed id 11872884)³ Pezzini A....Padovani A. (2002)
Correction of disease-causing CBS mutations in yeast. (PubMed id 9590298)³ Shan X. and Kruger W.D. (1998)
The gene for cystathionine beta-synthase (CBS) maps to the subtelomeric region on human chromosome 21q and to proximal mouse chromosome 17. (PubMed id 2894761)³ Munke M....Francke U. (1988)
CBS domains: structure, function, and pathology in human proteins. (PubMed id 16275737)¹ Ignoul S. and Eggermont J. (2005)
The distribution of cystathionine beta-synthase (CBS) in the eye: implication of the presence of a trans-sulfuration pathway for oxidative stress defense. (PubMed id 16769053)¹ Persa C....Lou M.F. (2006)
DNA methylation status is not impaired in treated cystathionine beta-synthase (CBS) deficient patients. (PubMed id 17336565)¹ Heil S.G....Blom H.J. (2007)
Detection of a novel deletion in the cystathionine beta-synthase (CBS) gene using an improved genomic DNA based method. (PubMed id 9708897)¹ Gaustadnes M....Rudiger N. (1998)
The molecular basis of cystathionine beta-synthase deficiency in Dutch patients with homocystinuria: effect of CBS genotype on biochemical and clinical phenotype and on response to treatment. (PubMed id 10364517)¹ Kluijtmans L.A....Blom H.J. (1999)
The molecular basis of cystathionine beta-synthase (CBS) deficiency in UK and US patients with homocystinuria. (PubMed id 14722927)¹ Moat S.J....Kraus J.P. (2004)
Linkage mapping of the cystathionine beta-synthase (CBS) gene on human chromosome 21 using a DNA polymorphism in the 3' untranslated region. (PubMed id 8094069)¹ Avramopoulos D....Antonarakis S.E. (1993)
Progressive cerebral edema associated with high methionine levels and betaine therapy in a patient with cystathionine beta-synthase (CBS) deficiency. (PubMed id 11857551)¹ Yaghmai R....Braverman N. (2002)
Structure of a CBS-domain pair from the regulatory gamma1 subunit of human AMPK in complex with AMP and ZMP. (PubMed id 17452784)¹ Day P....Yon J. (2007)
CBS domains form energy-sensing modules whose binding of adenosine ligands is disrupted by disease mutations. (PubMed id 14722619)¹ Scott J.W....Hardie D.G. (2004)
World distribution of the T833C/844INS68 CBS in cis double mutation: a reliable anthropological marker. (PubMed id 10190322)¹ Pepe G....Abbate R. (1999)

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Entrez Gene: 875	HGNC: 1550	AceView: CBS	Ensembl:ENSG00000160200	euGenes: HUgn875
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ATLAS Chromosomes in Cancer entry for CBS	Genetics and Cytogenetics in Oncology and Haematology
CBS mutation database	http://www.uchsc.edu/cbs/cbsdata/cgidata.htm
GeneReviews	http://www.genetests.org/query?gene=CBS

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CBS Gene

protein-coding GIFtS: 75

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CBS Gene

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Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

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