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ADSL Gene

protein-coding GIFtS: 63

GC22P039067

adenylosuccinate lyase
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)
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Aliases
AMPS ^², ³
ASASE ^²
ASL ^², ³
ASase ^³
Adenylosuccinase ^³
EC 4.3.2.2 ^³
OTTHUMP00000028724 ^²
adenylosuccinase ^²

Descriptions
adenylosuccinate lyase ^²

External Ids
HGNC: 291¹
Entrez Gene: 158²
UniProtKB: P30566³
Ensembl: ENSG00000100357⁷

Search outside databases for aliases for ADSL gene

Previous GC identifers: GC22P037357 GC22P038985

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

Adenylsuccinate lyase is involved in both de novo synthesis of purines and formation of adenosine

monophosphate from inosine monophosphate. It catalyzes two reactions in AMP biosynthesis: the

removal of a fumarate from succinylaminoimidazole carboxamide (SAICA) ribotide to give

aminoimidazole carboxamide ribotide (AICA) and removal of fumarate from adenylosuccinate to give

AMP. Adenylosuccinase deficiency results in succinylpurinemic autism, psychomotor retardation, and

, in some cases, growth retardation associated with muscle wasting and epilepsy. Two transcript

variants encoding different isoforms have been found for this gene. [provided by RefSeq]

(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)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the ADSL gene

Entrez Gene cytogenetic band: 22q13.1|22q13.2 Ensembl cytogenetic band: 22q13.1 HGNC cytogenetic band: 22q13.1

ADSL 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 22 GeneLoc Exon Structure

GeneLoc location for GC22P039067: (about GC identifiers)

Start:	39,072,479 bp from pter
End:	39,092,698 bp from pter
Size:	20,220 bases
Orientation:	plus strand

RefSeq DNA sequence:

NC_000022.9 NT_011520.11

(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: PUR8_HUMAN, P30566 (See protein sequence)

Recommended Name: Adenylosuccinate lyase

Size: 484 amino acids; 54889 Da

PDB structure from and Proteopedia :

2J91 (3D)

2VD6 (3D)

Secondary accessions: O75495 Q5TI34

Alternative splicing: 2 isoforms: P30566-1 P30566-2

Post-translational modifications:

View phosphorylation sites using PhosphoSite²

REFSEQ proteins (2 alternative transcripts):

NP_000017.1 NP_001116850.1

ENSEMBL proteins:

ENSP00000341429 ENSP00000216194

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 (Adenylosuccinate Lyase)
	Human Recombinant Proteins from Abnova (ADSL)

OriGene Purified Recombinant Human Protein: ADSL

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	IDA	18029348
GO:0005829	cytosol	EXP	8366112

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Antibodies for ADSL:

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

Assays for ADSL:

	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)
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Graphical View of Domain Structure for InterPro Entry P30566

ProtoNet protein and cluster: P30566

1 Blocks protein family: IPB000362 Fumarate lyase

UniProtKB/Swiss-Prot: PUR8_HUMAN, P30566

Similarity: Belongs to the lyase 1 family. Adenylosuccinate lyase subfamily

(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 (ADSL)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_000026

Applied Biosystems Silencer® siRNAs for ADSL

Sigma-Aldrich siRNA and siRNA Panels for ADSL

Sigma-Aldrich shRNA for ADSL

Explore Sigma-Aldrich super-pooled esiRNAs

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

OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_000026
Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_000026
untagged cDNA clones in CMV expression vector (see all 3): NM_000026

Primers:

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

OriGene genome-wide validated SYBR primer pairs: NM_000026

UniProtKB/Swiss-Prot: PUR8_HUMAN, P30566

Catalytic activity: N(6)-(1,2-dicarboxyethyl)AMP = fumarate + AMP

Catalytic activity: (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate =

fumarate + 5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide

Enzyme Number (IUBMB): EC 4.3.2.2

Genatlas biochemistry entry for ADSL:

adenylosuccinate lyase,twelfth step of the de novo purine (adenylate) biosynthesis component of a

bifunctional enzyme also catalyzing the eight step of the de novo purine biosynthesis,i.e,the

conversion of SAICAR to AICAR (amino-imidazole carboxamide ribonucleotide),also involved in the

purine nucleotide cycle

1 MGI phenotypic allele

for Adsl (no phenotypes)

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004018	adenylosuccinate lyase activity	IDA	16973378
GO:0016829	lyase activity	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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2 Sigma-Aldrich "Your Favorite Gene" Pathways for ADSL (Your Favorite Gene powered by Ingenuity)

Purine Metabolism
Alanine and Aspartate Metabolism

GeneDecks ADSL for the pathways selected above

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UniProtKB/Swiss-Prot: PUR8_HUMAN, P30566

Pathway: Purine metabolism; AMP biosynthesis via de novo pathway; AMP from IMP: step 2/2

Pathway: Purine metabolism; IMP biosynthesis via de novo pathway;

5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide from

N(2)-formyl-N(1)-(5-phospho-D-ribosyl)glycinamide: step 5/5

5/53 Interacting proteins for ADSL (ENSP00000216194³) via UniProtKB, MINT, and/or STRING (see all 53 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ATIC	ENSP00000236959³	STRING (score=.996)
ADSS	ENSP00000355493³	STRING (score=.995)
ASL	ENSP00000307188³	STRING (score=.984)
ADSSL1	ENSP00000333019³	STRING (score=.983)
PAICS	ENSP00000264221³	STRING (score=.981)

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006167	AMP biosynthetic process	IDA	11428554
GO:0009152	purine ribonucleotide biosynthetic process	IEA	--
GO:0051262	protein tetramerization	IDA	16973378

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(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 ADSL
10/18 Novoseek chemical compound relationships for ADSL gene (see all 18 )

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
adenylosuccinate	98.80	215	10673438 (8), 12392914 (7), 10926519 (6), 16973378 (6) (see all 74)
succinyladenosine	98.33	30	10958654 (4), 15902552 (2), 8412003 (1), 9211192 (1) (see all 12)
saicar	95.88	15	1872474 (3), 10958654 (2), 18830228 (2), 15902552 (2) (see all 9)
samp	87.53	11	1872474 (3), 10958654 (2), 9211192 (1), 18524658 (1) (see all 6)
purine	79.81	32	9211192 (1), 16839792 (1), 8845770 (1), 10727185 (1) (see all 24)
prpp	69.79	3	15566465 (1), 11098885 (1)
inosine monophosphate	34.74	7	8054268 (1), 15566465 (1)
uric acid	31.93	1	9989253 (1)
xanthine	30.63	3	16613999 (1), 8581129 (1), 8976090 (1)
ribose	27.25	3	9989253 (2), 9598054 (1)

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 (ADSL)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_000026

Sigma-Aldrich siRNA and siRNA Panels for ADSL

Sigma-Aldrich shRNA for ADSL

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_000026 NM_001123378

REFSEQ mRNAs for ADSL gene (2 alternative transcripts):

NM_000026.2 NM_001123378.1

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_000026 NM_001123378

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_000026
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_000026
                                 untagged cDNA clones in CMV expression vector (see all 3): NM_000026

Additional cDNA sequence:

AF067853.1 AF067854.1 AK225042.1 AK291091.1 AK293722.1 AK298187.1 AK300705.1 AK308662.1

BC000253.1 BC018881.2 CR456368.1 CR590245.1 CR594266.1 CR594779.1 CR599886.1 CR603727.1

CR609122.1 CR610943.1 CR613803.1 CR614973.1 CR616687.1 CR616911.1 CR619354.1 CR622395.1

CR623741.1 S60710.1 X65867.1

24/33 DOTS entries (see all 33 ):

DT.316819 DT.95245346 DT.101957367 DT.120649220 DT.97815882 DT.100885986 DT.100885990 DT.95245369

DT.92446407 DT.120648885 DT.120648915 DT.100671417 DT.97779515 DT.97859584 DT.100649322 DT.100726546

DT.100885984 DT.100885992 DT.120649229 DT.75146142 DT.95245347 DT.100645360 DT.100885985 DT.100885989

24/285 AceView cDNA sequences (see all 285 ):

BE795635 BX379813 BM983919 AF067853 AW328441 AI192994 CR616911 BM671915

BU856860 AU077053 BM762783 BQ071361 BC018881 BQ924128 BF026311 AI990690

BC000253 AU102545 BG122629 BI758091 CR619354 AI923786 BX357288 BM844835

highest scoring ESTs for ADSL:

AF067853 AA065231 AA494551 AA604018 AA612967 AF067854 AI129788 AI141884 AI143889 AI192994

Unigene Cluster for ADSL:

Adenylosuccinate lyase

Hs.75527 [show with all ESTs]

Unigene Representative Sequence: CR599886

GeneLoc Exon Structure

5/9 Alternative Splicing Database (ASD) splice patterns (SP) for ADSL (see all 9 )

ExUns:	1a	·	1b	·	1c	·	1d	^	2a	·	2b	^	3	^	4	^	5	^	6a	·	6b	·	6c	^	7a	·	7b	^	8	^	9a	·	9b	^	10a	·	10b	^	11	^	12	^	13	^	14
SP1:											-				-																-
SP2:											-				-																-												-
SP3:											-				-																-
SP4:											-		-		-		-
SP5:											-				-		-

About this scheme

ECgene alternative splicing isoforms for ADSL

2 Ensembl transcripts including schematic representations:

ENST00000342312 ENST00000216194

(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

ADSL expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for ADSL

¹ / ² / ³

5 probe-sets matching ADSL 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
36639_at²^{, 3}	U95-A	1	1.00	1.00	1.00	1.00	AF067853	1.00	1.00	1.00	1
202144_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_000026	0.60	1.00	0.82	1
210250_x_at²^{, 3}	U133-A	2	1.00	0.95	--	--	AF067854	0.80	1.00	0.91	1
202144_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
210250_x_at²	U133Plus2	2	1.00	0.95	--	--	--	--	--	--	--

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

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Data from

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

CGAP SAGE TAG: AGAAAATCAG

SOURCE GeneReport for Unigene cluster: Hs.75527
Expression variation in blood from EXPOLDB for ADSL
UniProtKB/Swiss-Prot: PUR8_HUMAN, P30566
Tissue specificity: Ubiquitously expressed. Both isoforms are produced by all tissues

(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 ADSL gene from 5/18 species (see all 18 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	ADSL¹	--	adenylosuccinate lyase	90.56(n) 93.6(a)	474499 XM_531727.2 XP_531727.2
cow (Bos taurus)	ADSL¹	--	adenylosuccinate lyase	89.88(n) 94.83(a)	510949 XM_868352.2 XP_873445.1
rat (Rattus norvegicus)	Adsl¹	--	adenylosuccinate lyase	86.23(n) 93.18(a)	315150 XM_235496.4 XP_235496.3
mouse (Mus musculus)	Adsl^{1, 5}	15 (46.00 cM)⁵	adenylosuccinate lyase^{1, 5}	86.91(n)¹ 94.01(a)¹	11564¹ NM_009634.4¹ NP_033764.2¹ AA606587⁵ AI893891⁵ (see all 19)
chicken (Gallus gallus)	ADSL¹	--	adenylosuccinate lyase	75.53(n) 84.53(a)	396540 NM_205529.1 NP_990860.1

About this table Species with no ortholog for ADSL

ENSEMBL Gene Tree for ADSL

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

10/155 NCBI SNPs in ADSL are shown (see all 155 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 60)

AB	SNP ID	Valid	Chr 22 pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--				--
	rs11089991^1,2	C,F,H	39080235(-)	`GTTCCT/ATAGCA`	2	M/K	mis¹ ese³		13		EU EA WA NA	1336
	rs909669^1,2	A,C	39072363(+)	`CTCCGC/TAGCCG`	1	--	ng5¹		0	--	--	--	--
--	rs2006965^1,2	A,C	39071586(+)	`TAAttC/Ttttta`	1	--	ng5¹ tfbs³		0	--	--	--	--
	rs2743714^1,2	H	39072051(+)	`CGCACA/GACCCG`	1	--	ng5¹		4		EU EA WA	420
	rs751367^1,2	C	39071466(+)	`GAACCC/TTTTCC`	1	--	ng5¹		0	--	--	--	--
	rs8192457^1,2	H	39080277(+)	`TTTCCA/GGTAAG`	2	Q/R	mis¹		4		EU EA WA	420
--	rs2743715^1,2	H	39072165(+)	`cgatcC/Gtccgg`	1	--	ng5¹ tfbs³		4		EU EA WA	420
	rs2735668^1,2	H	39087264(+)	`GAGATG/TGAGGA`	2	M/I	mis¹ ese³		4		EU EA WA	420
--	rs12484610^1,2	A	39071290(+)	`caccaC/Taccca`	1	--	ng5¹		0	--	--	--	--
	rs5757921^1,2	H	39072600(+)	`GTTTAG/ACGACA`	2	N/S	mis¹ ese³		4		EU EA WA	406

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HapMap Linkage Disequilibrium images for ADSL (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: 608222 disorders: 103050

UniProtKB/Swiss-Prot: PUR8_HUMAN, P30566

Defects in ADSL are the cause of adenylosuccinase deficiency (ADSL deficiency)

[MIM:103050]. ADSL deficiency is an autosomal recessive disorded characterized by the accumulation

in the body fluids of succinylaminoimidazole-carboxamide riboside (SAICA-riboside) and

succinyladenosine (S-Ado). Most children display marked psychomotor delay, often accompanied by

epilepsy or autistic features, or both, although some patients may be less profoundly retarded.

Occasionally, growth retardation and muscular wasting are also present

10/18 Novoseek disease relationships for ADSL gene (see all 18 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
autistic	81.34	15	1302001 (2), 8845770 (1), 11428554 (1), 2111814 (1) (see all 12)
argininosuccinate lyase deficiency	80.84	12	9165520 (4), 7474894 (2), 15471876 (2)
histidinemia	78.83	2	10360421 (1), 11098885 (1)
severe mental retardation	55.13	1	11428554 (1)
encephalopathy neonatal	54.51	1	17188615 (1)
mental retardation	52.55	7	1302001 (2), 18830228 (2), 10673438 (1), 12833398 (1)
lesch-nyhan syndrome	51.38	1	8976090 (1)
epilepsy	47.79	7	9553952 (2), 9266401 (1), 11042421 (1), 18830228 (1) (see all 6)
developmental delay	47.66	1	15471876 (1)
homocystinuria	43.66	2	1761630 (1), 17061190 (1)

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Genatlas disease: ADSL

mental retardation,severe,with autistic features and succinylpurinemia

Human Gene Mutation Database: ADSL

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

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
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10/125 PubMed articles for ADSL gene (see all 125 ):

Mapping of the human adenylosuccinate lyase (ADSL) gene to chromosome 22q13.1-->q13.2. (PubMed id 8404037)^{1, 2, 3, 4} Fon E.A.... Rouleau G.A. (1993)
Human adenylosuccinate lyase (ADSL), cloning and characterization of full-length cDNA and its isoform, gene structure and molecular basis for ADSL deficiency in six patients. (PubMed id 10888601)^{1, 3, 4} Kmoch S....Sebesta I. (2000)
Mutation analysis in adenylosuccinate lyase deficiency: eight novel mutations in the re-evaluated full ADSL coding sequence. (PubMed id 10090474)^{1, 3, 4} Marie S....van den Berghe G. (1999)
Intrafamilial variability in the phenotypic expression of adenylosuccinate lyase deficiency: a report on three patients. (PubMed id 12833398)^{1, 3, 4} Edery P....Tardieu M. (2003)
Clinical, biochemical and molecular genetic correlations in adenylosuccinate lyase deficiency. (PubMed id 10958654)^{1, 3, 4} Race V.... Van den Berghe G. (2000)
A mutation in adenylosuccinate lyase associated with mental retardation and autistic features. (PubMed id 1302001)^{1, 3, 4} Stone R.L.... Dixon J.E. (1992)
Screening for adenylosuccinate lyase deficiency: clinical, biochemical and molecular findings in four patients. (PubMed id 12368987)^{1, 3, 4} Castro M.... Ugarte M. (2002)
Identification of new mutations in the adenylosuccinate lyase gene associated with impaired enzyme activity in lymphocytes and red blood cells. (PubMed id 9545543)^{1, 3, 4} Verginelli D.... Gross M. (1998)
Adenylosuccinase deficiency presenting with epilepsy in early infancy. (PubMed id 9266401)^{1, 3, 4} Maaswinkel-Mooij P.D.... Poorthuis B.J.H.M. (1997)
A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)^{3, 4} Collins J.E.... Dunham I. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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Entrez Gene: 158	HGNC: 291	AceView: ADSL	Ensembl:ENSG00000100357	euGenes: HUgn158
ECgene: ADSL	H-InvDB: ADSL

(According to HUGE)
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(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
ADSLdb	http://www.icp.ucl.ac.be/adsldb/
GeneReviews	http://www.genetests.org/query?gene=ADSL

Licensable Technologies for ADSL
(Available from WIS Yeda, Salk, Tufts)

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(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section

Products for ADSL:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for ADSL-related products

	Millipore Custom Antibody & Bulk Services
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	Predesigned and custom siRNAs for ADSL		Antibodies for ADSL
	Explore super-pooled esiRNAs		Browse proteins at Sigma-Aldrich
	Lentivirus-delivered shRNAs for ADSL		Browse small molecules at Sigma-Aldrich
	"Your Favorite Gene" Pathways		feedback

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	Flow Cytometry Kits		Protease Activity Assays & Reagents
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	Multiplex/Array Assay Kits & Reagents		ELISpot Kits & Development Modules
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	Antibodies (Adenylosuccinate Lyase)

	Tagged/untagged cDNA clones
	Validated SYBR primer pairs
	Purified proteins from HEK293T cells
	Western blot validated antibodies
	shRNA in GFP-retroviral vector

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Antibodies for ADSL

GeneCards Homepage - Last full update: 1 Jul 2009 Incremental update: 13 Oct 2009

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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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The GeneCards Human Gene Database: Copyright © 1996-2009, Weizmann Institute of Science. All Rights Reserved.
ADSL Gene at Home site.
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ADSL Gene

protein-coding GIFtS: 63

Aliases &
Descriptions
for ADSL

Summaries
for ADSL

Genomic Location
for ADSL

Proteins
for ADSL

Protein Domains/
Families
for ADSL

Gene Function
for ADSL

Pathways & Interactions
for ADSL

Drugs & Compounds
for ADSL

Transcripts
for ADSL

Expression
for ADSL

Orthologs
for ADSL

Paralogs
for ADSL

SNPs/Variants
for ADSL

Disorders & Mutations
for ADSL

Medical News
for ADSL

Publications
for ADSL

Search for ADSL

Genome Databases showing ADSL

Other Databases showing ADSL

Specialized Databases showing ADSL

Licensable Technologies
for ADSL

Services
for ADSL

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

ADSL Gene

protein-coding GIFtS: 63

Aliases & Descriptionsfor ADSL

Summariesfor ADSL

Genomic Locationfor ADSL

Proteinsfor ADSL

Protein Domains/Familiesfor ADSL

Gene Functionfor ADSL

Pathways & Interactionsfor ADSL

Drugs & Compoundsfor ADSL

Transcriptsfor ADSL

Expression for ADSL

Orthologsfor ADSL

Paralogsfor ADSL

SNPs/Variantsfor ADSL

Disorders & Mutationsfor ADSL

Medical Newsfor ADSL

Publicationsfor ADSL

Search for ADSL

Genome Databases showing ADSL

Other Databases showing ADSL

Specialized Databases showing ADSL

Licensable Technologiesfor ADSL

Servicesfor ADSL

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

Aliases &
Descriptions
for ADSL

Summaries
for ADSL

Genomic Location
for ADSL

Proteins
for ADSL

Protein Domains/
Families
for ADSL

Gene Function
for ADSL

Pathways & Interactions
for ADSL

Drugs & Compounds
for ADSL

Transcripts
for ADSL

Expression
for ADSL

Orthologs
for ADSL

Paralogs
for ADSL

SNPs/Variants
for ADSL

Disorders & Mutations
for ADSL

Medical News
for ADSL

Publications
for ADSL

Licensable Technologies
for ADSL

Services
for ADSL