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GAB3 Gene

protein-coding GIFtS: 49

GC0XM153556

GRB2-associated binding protein 3
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)
About This Section

Aliases
OTTHUMP00000026055 ^²

Descriptions
DOS/Gab family member 3 ^²
GRB2-associated binder 3 ^³
GRB2-associated binding protein 3 ^²
Gab3 protein ^²
Gab3 scaffolding protein ^²
Growth factor receptor bound protein 2-associated protein 3 ^³

External Ids
HGNC: 17515¹
Entrez Gene: 139716²
UniProtKB: Q8WWW8³
Ensembl: ENSG00000160219⁷

Search outside databases for aliases for GAB3 gene

Previous GC identifers: GC0XM147966 GC0XM150284 GC0XM151488 GC0XM152371 GC0XM153467

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for GAB3:

This gene is a member of the GRB2-associated binding protein gene family. These proteins are

scaffolding/docking proteins that are involved in several growth factor and cytokine signaling

pathways, and they contain a pleckstrin homology domain, and bind SHP2 tyrosine phosphatase and

GRB2 adapter protein. The protein encoded by this gene facilitates macrophage differentiation. Two

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

RefSeq]

UniProtKB/Swiss-Prot: GAB3_HUMAN, Q8WWW8

Function: Unknown function

(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 GAB3 gene

Entrez Gene cytogenetic band: Xq28 Ensembl cytogenetic band: Xq28 HGNC cytogenetic band: Xq28

GAB3 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 X GeneLoc Exon Structure

GeneLoc location for GC0XM153556: (about GC identifiers)

Start:	153,556,720 bp from pter
End:	153,632,542 bp from pter
Size:	75,823 bases
Orientation:	minus strand

RefSeq DNA sequence:

NC_000023.9 NT_011726.13

(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: GAB3_HUMAN, Q8WWW8 (See protein sequence)

Recommended Name: GRB2-associated-binding protein 3

Size: 586 amino acids; 65589 Da

Subunit: Interacts with PIK3R/p85, SHP2 and GRAP2/MONA (By similarity). May interact with Grb2

Post-translational modifications:

Phosphorylated on tyrosine residue(s) after macrophage colony-stimulating factor (M-CSF) receptor

stimulation (By similarity)¹

View phosphorylation sites using PhosphoSite²

REFSEQ proteins (2 alternative transcripts):

NP_001075042.1 NP_542179.1

ENSEMBL proteins:

ENSP00000358588 ENSP00000358581

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
	Browse Abcam for Recombinant Proteins
	Human Recombinant Proteins from Abnova (GAB3)

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

Antibodies for GAB3:

	Browse Antibodies Central at Invitrogen
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Sigma-Aldrich Antibodies for GAB3
	Browse R&D Systems for Antibodies
	Search for antibodies at Abcam and the World's Antibody Gateway (free search engine of over 150 antibody companies)
	Browse Abnova for Monoclonal and Polyclonal Antibodies
	Search Novus for antibodies for GAB3

Assays for GAB3:

	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 Q8WWW8

ProtoNet protein and cluster: Q8WWW8

1 Blocks protein family: IPB001849 Pleckstrin-like

UniProtKB/Swiss-Prot: GAB3_HUMAN, Q8WWW8

Similarity: Belongs to the GAB family

Similarity: Contains 1 PH 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 (GAB3)
		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_080612

Applied Biosystems Silencer® siRNAs for GAB3

Sigma-Aldrich siRNA for GAB3

Sigma-Aldrich shRNA for GAB3

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Browse Clone Ranger at Invitrogen for clones
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_001081573
Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_001081573
untagged cDNA clones in CMV expression vector (see all 2): NM_001081573

Primers:

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

OriGene genome-wide validated SYBR primer pairs: NM_001081573

UniProtKB/Swiss-Prot: GAB3_HUMAN, Q8WWW8

Function: Unknown function

1 MGI mutant phenotype (inferred from 1 allele) (MGI details for Gab3):

normal

(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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Gene Network Central^TM Interacting Genes and Proteins Network for GAB3

5/9 Interacting proteins for GAB3 (ENSP00000358588³ Q8WWW8²) via UniProtKB, MINT, and/or STRING (see all 9 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
GRB2	ENSP00000339007³	STRING (score=.921)
CSF1	ENSP00000349854³	STRING (score=.91)
PTPN11	ENSP00000340944³	STRING (score=.908)
CSF1R	ENSP00000286301³	STRING (score=.817)
GRAP2	ENSP00000339186³	STRING (score=.804)

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 GAB3

(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 (GAB3)
		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_080612

Sigma-Aldrich siRNA for GAB3

Sigma-Aldrich shRNA for GAB3

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_001081573 NM_080612

REFSEQ mRNAs for GAB3 gene (2 alternative transcripts):

NM_001081573.1 NM_080612.2

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_001081573 NM_080612

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_001081573
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_001081573
                                 untagged cDNA clones in CMV expression vector (see all 2): NM_001081573

Additional cDNA sequence:

AK126283.1 AK307927.1 AL832051.1 AY057989.1 DQ656063.2

6 DOTS entries:

DT.411880 DT.40287998 DT.121307111 DT.405538 DT.40188942 DT.86840304

24/45 AceView cDNA sequences (see all 45 ):

BQ181344 AA252047 BQ574803 CN481476 AI350580 AI421685 BP337050 AI076252

AI355583 CA427183 CB164283 AA495984 AA808085 NM_080612 AY057989 AK126283

BG054872 N48068 AI797815 AA252066 AI079208 N53265 BF509485 BE671873

highest scoring ESTs for GAB3:

AA495984 AI799102 AK126283 AL832051 AY057989 CN481476 AA252047 AA252066 AA707403 AA805561

Unigene Cluster for GAB3:

GRB2-associated binding protein 3

Hs.496982 [show with all ESTs]

Unigene Representative Sequence: NM_001081573

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for GAB3

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

About this scheme

ECgene alternative splicing isoforms for GAB3

2 Ensembl transcripts including schematic representations:

ENST00000369575 ENST00000369568

(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

GAB3 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for GAB3

¹ / ² / ³

3 probe-sets matching GAB3 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
56168_at²^{, 3}	U95-B	1	1.00	1.00	1.00	1.00	AA495984	0.80	1.00	0.91	1
228410_at²^{, 3}	U133-B	1	1.00	1.00	--	--	AA495984	0.80	1.00	0.91	1
228410_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

GeneDecks GAB3 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: ACCTTTAAAA

SOURCE GeneReport for Unigene cluster: Hs.496982

(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 GAB3 gene from 5 species

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
chimpanzee (Pan troglodytes)	GAB3¹	--	GRB2-associated binding protein 3	99.77(n) 99.83(a)	473837 XM_529211.2 XP_529211.2
cow (Bos taurus)	GAB3¹	--	GRB2-associated binding protein 3	82.59(n) 79.9(a)	512009 XM_589443.3 XP_589443.3
mouse (Mus musculus)	Gab3^{1, 5}	X⁵	growth factor receptor bound protein 2-associated protein more^{1, 5}	82.59(n)¹ 78.01(a)¹	210710¹ NM_153073.2¹ NP_694713.1¹ AJ748654⁵ AK031227⁵ (see all 13)
chicken (Gallus gallus)	GAB3¹	--	GRB2-associated binding protein 3	70.22(n) 69.19(a)	428717 XM_426275.2 XP_426275.2
zebrafish (Danio rerio)	CU104724.1¹	--	novel protein similar to vertebrate GRB2-associated more	53.07(n) 50.61(a)	797259 XM_001337679.2 XP_001337715.2

About this table Species with no ortholog for GAB3

ENSEMBL Gene Tree for GAB3

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

Paralogs for GAB3 gene

GAB1² GAB2² GAB4²

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

10/190 NCBI SNPs in GAB3 are shown (see all 190 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 54)

AB	SNP ID	Valid	Chr X pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--				--
	rs4431759^1,2	A,C,F,H	153557667(+)	`TTCACC/TACTGA`	2	--	ut3¹ ese³		12		EU EA WA NA	844
	rs4595297^1,2	A,C,F,H	153556589(+)	`CGTGAG/ATCAGG`	2	--	ng5¹		7		EU EA WA NA	554
	rs17281349^1,2	C,F,H	153594055(+)	`TGAGGG/AGTGGA`	2	S/P	mis¹ ese³		8		NA EU EA WA	634
	rs5945108^1,2	C,F,H	153557591(+)	`GCTATA/GAATAC`	2	--	ut3¹ ese³		11		EU EA WA NA	770
	rs4425916^1,2	A,C	153556397(+)	`TTACCA/TTCTCA`	2	--	ng5¹		0	--	--	--	--
	rs4425917^1,2	F,H	153556607(+)	`TGTTGT/CACTTC`	2	--	ng5¹		4		EU EA WA	420
	rs3813455^1,2	F,H	153557329(+)	`GTCAGC/GTCAAA`	2	--	ut3¹		4		EU EA WA	418
	rs12395061^1,2	F,H	153558714(+)	`TCCCTA/GTTGAA`	2	--	ut3¹ ese³		4		EU EA WA	402
	rs12389145^1,2	H	153634212(+)	`TGAGTC/ATGGTC`	2	--	ng3¹		4		EU EA WA	416
	rs7066018^1,2	C,F,H	153594128(+)	`TCCAAT/CGAACG`	2	S/S	syn¹ ese³		12		NA EU EA WA	846

About this table

HapMap Linkage Disequilibrium images for GAB3 (up to first 250kb)

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

OMIM: 300482

(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)
About This Section

4 PubMed articles for GAB3 gene:

Gab3, a new DOS/Gab family member, facilitates macrophage differentiation. (PubMed id 11739737)^{2, 3, 4} Wolf I....Rohrschneider L.R. (2002)
Gab3-deficient mice exhibit normal development and hematopoiesis and are immunocompetent. (PubMed id 12640125)³ Seiffert M....Rohrschneider L.R. (2003)
The gift of Gab. (PubMed id 11943184)³ Liu Y. and Rohrschneider L.R. (2002)
Induced expression and association of the Mona/Gads adapter and Gab3 scaffolding protein during monocyte/macrophage differentiation. (PubMed id 11997510)³ Bourgin C....Mouchiroud G. (2002)

(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: 139716	HGNC: 17515	AceView: GAB3	Ensembl:ENSG00000160219	euGenes: HUgn139716
ECgene: GAB3	H-InvDB: GAB3

(According to HUGE)
About This Section

(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

Licensable Technologies for GAB3
(Available from WIS Yeda, Salk, Tufts)

About This Section

(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)
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Products for GAB3:

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 GAB3-related products

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
	Millipore Target Screening & Profiling Services

	Predesigned and custom siRNAs for GAB3		Antibodies for GAB3
	Explore super-pooled esiRNAs		Browse proteins at Sigma-Aldrich
	Lentivirus-delivered shRNAs for GAB3		Browse small molecules at Sigma-Aldrich
	"Your Favorite Gene" Pathways		feedback

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	Cell Culture Products		ELISAs
	Flow Cytometry Kits		Protease Activity Assays & Reagents
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	Multiplex/Array Assay Kits & Reagents		ELISpot Kits & Development Modules
	Recombinant & Natural Proteins

	Recombinant Proteins (GAB3)
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	Custom Service for Rabbit Pab from Full-length Protein

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Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies

Search Novus for antibodies for GAB3

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GAB3 Gene

protein-coding GIFtS: 49

Aliases &
Descriptions
for GAB3

Summaries
for GAB3

Genomic Location
for GAB3

Proteins
for GAB3

Protein Domains/
Families
for GAB3

Gene Function
for GAB3

Pathways & Interactions
for GAB3

Drugs & Compounds
for GAB3

Transcripts
for GAB3

Expression
for GAB3

Orthologs
for GAB3

Paralogs
for GAB3

SNPs/Variants
for GAB3

Disorders & Mutations
for GAB3

Medical News
for GAB3

Publications
for GAB3

Search for GAB3

Genome Databases showing GAB3

Other Databases showing GAB3

Specialized Databases showing GAB3

Licensable Technologies
for GAB3

Services
for GAB3

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

GAB3 Gene

protein-coding GIFtS: 49

Aliases & Descriptionsfor GAB3

Summariesfor GAB3

Genomic Locationfor GAB3

Proteinsfor GAB3

Protein Domains/Familiesfor GAB3

Gene Functionfor GAB3

Pathways & Interactionsfor GAB3

Drugs & Compoundsfor GAB3

Transcriptsfor GAB3

Expression for GAB3

Orthologsfor GAB3

Paralogsfor GAB3

SNPs/Variantsfor GAB3

Disorders & Mutationsfor GAB3

Medical Newsfor GAB3

Publicationsfor GAB3

Search for GAB3

Genome Databases showing GAB3

Other Databases showing GAB3

Specialized Databases showing GAB3

Licensable Technologiesfor GAB3

Servicesfor GAB3

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 GAB3

Summaries
for GAB3

Genomic Location
for GAB3

Proteins
for GAB3

Protein Domains/
Families
for GAB3

Gene Function
for GAB3

Pathways & Interactions
for GAB3

Drugs & Compounds
for GAB3

Transcripts
for GAB3

Expression
for GAB3

Orthologs
for GAB3

Paralogs
for GAB3

SNPs/Variants
for GAB3

Disorders & Mutations
for GAB3

Medical News
for GAB3

Publications
for GAB3

Licensable Technologies
for GAB3

Services
for GAB3