V3 here soon-try beta now


Gene Search (GeneCards Home)	\|	GeneCards Guide	\|	User Feedback	\|	Terms of Use	\|	Notice about third-party sites

LARGE Gene

protein-coding GIFtS: 65

GC22M031993

like-glycosyltransferase
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
EC 2.4.-.- ^³
KIAA0609 ^¹, ², ³, ⁵
LARGE1 ^³
MDC1D ^², ⁵
OTTHUMP00000028624 ^²
like-glycosyltransferase ^²

Descriptions
Acetylglucosaminyltransferase-like 1A ^², ³
acetylglucosaminyltransferase-like protein ^²

External Ids
HGNC: 6511¹
Entrez Gene: 9215²
UniProtKB: O95461³
Ensembl: ENSG00000133424⁷

Search outside databases for aliases for LARGE gene

Previous GC identifer: GC22M030365

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

EntrezGene summary for LARGE:

This gene, which is one of the largest in the human genome, encodes a member of the

N-acetylglucosaminyltransferase gene family. It encodes a glycosyltransferase which participates

in glycosylation of alpha-dystroglycan, and may carry out the synthesis of glycoprotein and

glycosphingolipid sugar chains. It may also be involved in the addition of a repeated disaccharide

unit. Mutations in this gene cause MDC1D, a novel form of congenital muscular dystrophy with

severe mental retardation and abnormal glycosylation of alpha-dystroglycan. Alternative splicing

of this gene results in two transcript variants that encode the same protein. [provided by RefSeq]

UniProtKB/Swiss-Prot: LARGE_HUMAN, O95461

Function: Glycosyltransferase which participates in glycosylation of alpha-dystroglycan. May carry

out the synthesis of glycoprotein and glycosphingolipid sugar chains. May be involved in the

addition of a repeated disaccharide unit

Gene Wiki entry for LARGE

(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 LARGE gene

Entrez Gene cytogenetic band: 22q12.3 Ensembl cytogenetic band: 22q12.3 HGNC cytogenetic band: 22q12.3

LARGE 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 GC22M031993: (about GC identifiers)

Start:	31,998,847 bp from pter
End:	32,646,410 bp from pter
Size:	647,564 bases
Orientation:	minus 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)
About This Section

UniProtKB/Swiss-Prot: LARGE_HUMAN, O95461 (See protein sequence)

Recommended Name: Glycosyltransferase-like protein LARGE1

Size: 756 amino acids; 88066 Da

Subcellular location: Golgi apparatus membrane; Single-pass type II membrane protein

Secondary accessions: O60348 Q17R80 Q9UGD1 Q9UGE7 Q9UGG3 Q9UGZ8 Q9UH22

Alternative splicing: 2 isoforms: O95461-1 O95461-2

Post-translational modifications:

View phosphorylation sites using PhosphoSite²

REFSEQ proteins (2 alternative transcripts):

NP_004728.1 NP_598397.1

ENSEMBL proteins:

ENSP00000385223 ENSP00000336636 ENSP00000380549 ENSP00000347088

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 (LARGE)

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

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000139	Golgi membrane	IEA	--
GO:0005794	Golgi apparatus	IEA	--
GO:0016020	membrane	IEA	--
GO:0016021	integral to membrane	IEA	--
GO:0030173	integral to Golgi membrane	TAS	9892679

About this table

Antibodies for LARGE:

	Browse Antibodies Central at Invitrogen
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Browse Antibodies at Sigma-Aldrich
	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 LARGE

Assays for LARGE:

	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 O95461

ProtoNet protein and cluster: O95461

1 Blocks protein family: IPB002495 Glycosyl transferase

UniProtKB/Swiss-Prot: LARGE_HUMAN, O95461

Similarity: Belongs to the glycosyltransferase 8 family

(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 (LARGE)
		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_133642

Applied Biosystems Silencer® siRNAs for LARGE

Sigma-Aldrich siRNA and siRNA Panels for LARGE

Sigma-Aldrich shRNA for LARGE

Explore Sigma-Aldrich super-pooled esiRNAs

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

OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_004737
Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_004737
untagged cDNA clones in CMV expression vector (see all 2): NM_004737

Primers:

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

OriGene genome-wide validated SYBR primer pairs: NM_133642

UniProtKB/Swiss-Prot: LARGE_HUMAN, O95461

Function: Glycosyltransferase which participates in glycosylation of alpha-dystroglycan. May carry

out the synthesis of glycoprotein and glycosphingolipid sugar chains. May be involved in the

addition of a repeated disaccharide unit

Enzyme Number (IUBMB): EC 2.4.-.-

Genatlas biochemistry entry for LARGE:

large new member of the glycosyltransferase gene family,putative N-acetylglucosaminyl

transferase,ubiquitously expressed,localized in the meningioma critical region,see also MN1

13 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Large):

	behavior/neurological	digestive/alimentary	growth/size	hearing/vestibular/ear
homeostasis/metabolism	immune system	life span-post-weaning/aging	muscle	nervous system
reproductive system	skeleton	vision/eye

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0008375	acetylglucosaminyltransferase activity	TAS	9892679
GO:0016757	transferase activity, transferring glycosyl groups	TAS	9892679

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.)
About This Section

UniProtKB/Swiss-Prot: LARGE_HUMAN, O95461

Pathway: Protein modification; protein glycosylation

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

5/18 Interacting proteins for LARGE (ENSP00000347088³) via UniProtKB, MINT, and/or STRING (see all 18 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
FKTN	ENSP00000223528³	STRING (score=.967)
POMGNT1	ENSP00000361060³	STRING (score=.967)
FKRP	ENSP00000326570³	STRING (score=.964)
DAG1	ENSP00000312435³	STRING (score=.959)
POMT2	ENSP00000261534³	STRING (score=.956)

About this table

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006044	N-acetylglucosamine metabolic process	TAS	9892679
GO:0006486	protein amino acid glycosylation	TAS	9892679
GO:0006688	glycosphingolipid biosynthetic process	TAS	9892679
GO:0046716	muscle maintenance	ISS	--

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 LARGE

(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 (LARGE)
		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_133642

Sigma-Aldrich siRNA and siRNA Panels for LARGE

Sigma-Aldrich shRNA for LARGE

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_004737 NM_133642

REFSEQ mRNAs for LARGE gene (2 alternative transcripts):

NM_004737.4 NM_133642.3

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_004737 NM_133642

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_004737
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_004737
                                 untagged cDNA clones in CMV expression vector (see all 2): NM_004737

Additional cDNA sequence:

AB011181.3 AJ007583.1 AK294766.1 AK295636.1 AK301808.1 AK310462.1 BC117425.1 BC126404.1

CR456510.1 CR607752.1 CR617639.1

10 DOTS entries:

DT.100813135 DT.315705 DT.120629379 DT.100813136 DT.95329678 DT.120629265 DT.97763862 DT.433516

DT.75113844 DT.91805939

24/156 AceView cDNA sequences (see all 156 ):

AA908203 AA505335 AA653284 CR617639 CD619264 AW613918 BF445377 CR607752

H55069 AJ007583 H55386 BF110360 BQ233229 AW575461 AU123792 CR456510

BM699209 BQ900950 BX107803 BM558730 AI199334 BE218446 BQ680300 BE327169

highest scoring ESTs for LARGE:

AJ007583 AI167885 AI198348 AI199197 AI933128 AW575461 BF057493 AB011181 AA001054 AA026587

Unigene Cluster for LARGE:

Like-glycosyltransferase

Hs.474667 [show with all ESTs]

Unigene Representative Sequence: AJ007583

GeneLoc Exon Structure

5/7 Alternative Splicing Database (ASD) splice patterns (SP) for LARGE (see all 7 )

ExUns:	1	^	2	^	3a	·	3b	^	4	^	5	^	6	^	7	^	8a	·	8b	·	8c	·	8d	·	8e	^	9	^	10	^	11	^	12	^	13	^	14	^	15	^	16	^	17	^	18	^	19	^	20
SP1:					-		-						-		-		-
SP2:					-		-		-				-		-		-																						-
SP3:													-		-		-
SP4:			-		-		-						-		-		-
SP5:

About this scheme

ECgene alternative splicing isoforms for LARGE

4 Ensembl transcripts including schematic representations:

ENST00000402320 ENST00000337431 ENST00000397394 ENST00000354992

(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

LARGE expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for LARGE

¹ / ² / ³

5 probe-sets matching LARGE 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
41346_at²^{, 3}	U95-A	1	1.00	1.00	1.00	1.00	AJ007583	1.00	0.90	0.95	1
204414_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_004737	0.60	1.00	0.82	1
215543_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	AB011181	0.80	0.88	0.84	1
204414_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
215543_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

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

About GeneDecksing

About this table

Data from

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

CGAP SAGE TAG: AAAGCCCAGT

SOURCE GeneReport for Unigene cluster: Hs.474667
Expression variation in blood from EXPOLDB for LARGE
UniProtKB/Swiss-Prot: LARGE_HUMAN, O95461
Tissue specificity: Ubiquitous. Highest expression in heart, brain and skeletal muscle

(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 LARGE gene from 5/10 species (see all 10 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	LARGE¹	--	like-glycosyltransferase	91.23(n) 97.09(a)	474521 XM_531751.2 XP_531751.2
chimpanzee (Pan troglodytes)	LARGE¹	--	like-glycosyltransferase	99.69(n) 100(a)	470192 XM_001154492.1 XP_001154492.1
cow (Bos taurus)	LARGE¹	--	like-glycosyltransferase	91.62(n) 97.75(a)	506466 XM_582913.3 XP_582913.3
rat (Rattus norvegicus)	Large¹	--	like-glycosyltransferase	88.45(n) 97.35(a)	361368 XM_341645.3 XP_341646.2
mouse (Mus musculus)	Large^{1, 5}	8 (34.00 cM)⁵	like-glycosyltransferase^{1, 5}	88.8(n)¹ 97.75(a)¹	16795¹ NM_010687.1¹ NP_034817.1¹ AJ006278⁵ AK053707⁵ (see all 15)

About this table Species with no ortholog for LARGE

ENSEMBL Gene Tree for LARGE

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

Paralogs for LARGE gene

GYLTL1B² ENSG00000174684²

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

10/4968 NCBI SNPs in LARGE are shown (see all 4968 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 1784)

AB	SNP ID	Valid	Chr 22 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
	rs16992034^1,2	C,F,H	31999492(+)	`CCCATG/CAATCA`	2	--	ut3¹ ese³		7	NA EU EA WA	558
	rs1046166^1,2	C,F,H	32003125(-)	`GAGACG/ATGACT`	2	H/R	mis¹ ese³		9	MN EU EA WA	1020
	rs2267328^1,2	C,F,H	32647623(+)	`TCCTCT/GGAGGA`	2	--	ng3¹ trp³		4	EU EA WA	416
	rs16992986^1,2	C,F,H	32487526(+)	`TCCTCG/AGCCTC`	2	--	ut5¹ ese³		11	NA EU EA WA	960
	rs16992029^1,2	C,F,H	31998879(+)	`AGATGG/CTTTGA`	2	--	ng5¹ ese³		15	NA EU EA WA	1398
	rs16992036^1,2	F,H	32000206(+)	`AACCTC/TTGGGA`	2	--	ut3¹ ese³		7	NA EU EA WA	560
--	rs470035^1,2	F	32376559(+)	`CATGCG/CCACCT`	2	G/R	mis¹ ese³		2	CSA MN	224
	rs1046181^1,2	H	31999257(-)	`CAACCA/CCCTTC`	2	--	ut3¹		5	MN EU EA WA	604
	rs86487^1,2	A,C,F,H,O	32352284(-)	`TGCGCC/TGGATA`	2	A/A	syn¹ ese³		10	MN EU EA WA NA	1010
	rs11913417^1,2	A,C,F,H	32009238(+)	`GCTTTT/CGACTT`	2	S/S	syn¹ ese³		5	EU EA WA NA	458

About this table

HapMap Linkage Disequilibrium images for LARGE (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: 603590 disorders: 608840 236670

UniProtKB/Swiss-Prot: LARGE_HUMAN, O95461

Defects in LARGE are the cause of congenital muscular dystrophy type 1D (MDC1D)

[MIM:608840]. The congenital muscular dystrophies (CMD) are a heterogeneous group of autosomal

recessive disorders presenting in infancy with muscle weakness, contractures, and dystrophic

changes on skeletal muscle biopsy. Structural brain defects, with or without mental retardation,

are additional features of several CMD syndromes. MDC1D presented with congenital muscular

dystrophy, profound mental retardation, and white matter changes and subtle structural

abnormalities on brain MRI. Patient skeletal muscle biopsy showed reduced immunolabeling of

alpha-dystroglycan

7 Novoseek disease relationships for LARGE gene

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
walker-warburg syndrome	95.94	4	17436019 (2), 15605948 (1), 15773323 (1)
muscle-eye-brain disease	95.15	1	15605948 (1)
muscular dystrophies	89.44	14	15833424 (2), 15661757 (2), 17436019 (2), 12678490 (1) (see all 10)
fukuyama congenital muscular dystrophy	89.29	2	15605948 (1), 15229394 (1)
eye abnormalities	81.43	1	17436019 (1)
muscular dystrophy limb-girdle	77.27	1	15605948 (1)
severe mental retardation	55.26	1	17436019 (1)

About this table

1 PharmGKB disease relationship for LARGE gene

Disease	PharmGKB Relations	PubMed IDs for articles supporting these relationships
Leukemia, Lymphocytic, Acute, L1	FA GN	12086872

About this table

Human Gene Mutation Database: LARGE
Human Genome Epidemiology Navigator: LARGE (3350 documents)

(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

10/43 PubMed articles for LARGE gene (see all 43 ):

The human LARGE gene from 22q12.3-q13.1 is a new, distinct member of the glycosyltransferase gene family. (PubMed id 9892679)^{1, 2, 3, 4} Peyrard M.... Dumanski J.P. (1999)
Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan. (PubMed id 12966029)^{1, 2, 3, 4} Longman C....Muntoni F. (2003)
The DNA sequence of human chromosome 22. (PubMed id 10591208)^{2, 3, 4} Dunham I....O'Brien K.P. (1999)
Localization and functional analysis of the LARGE family of glycosyltransferases: significance for muscular dystrophy. (PubMed id 15661757)^{1, 3, 4} Brockington M.... Muntoni F. (2005)
LARGE2 facilitates the maturation of alpha-dystroglycan more effectively than LARGE. (PubMed id 15752776)^{1, 3, 4} Fujimura K.... Narimatsu H. (2005)
Characterization of the LARGE family of putative glycosyltransferases associated with dystroglycanopathies. (PubMed id 15958417)^{3, 4} Grewal P.K....Hewitt J.E. (2005)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{3, 4} Gerhard D.S....Malek J. (2004)
A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)^{3, 4} Collins J.E.... Dunham I. (2004)
Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PubMed id 9628581)^{3, 4} Nagase T....Ohara O. (1998)
Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome. (PubMed id 17436019)^{1, 3} van Reeuwijk J....Voit T. (2007)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		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)
About This Section

Entrez Gene: 9215	HGNC: 6511	AceView: LARGE	Ensembl:ENSG00000133424	euGenes: HUgn9215
ECgene: LARGE	H-InvDB: LARGE

(According to HUGE)
About This Section

HUGE: KIAA0609

(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
ATLAS Chromosomes in Cancer entry for LARGE	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.genetests.org/query?gene=LARGE
GGDB	http://riodb.ibase.aist.go.jp/rcmg/ggdb/
Functional Glycomics Gateway - GTase	http://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_549

Licensable Technologies for LARGE
(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)
About This Section

Products for LARGE:

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 LARGE-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 LARGE		Browse antibodies at Sigma-Aldrich
	Explore super-pooled esiRNAs		Browse proteins at Sigma-Aldrich
	Lentivirus-delivered shRNAs for LARGE		Browse small molecules at Sigma-Aldrich
	"Your Favorite Gene" Pathways		feedback

	Antibodies		Primer Pairs
	Cell Culture Products		ELISAs
	Flow Cytometry Kits		Protease Activity Assays & Reagents
	Cell Selection/Detection Kits & Reagents		ELISA/Assay Development Kits & Reagents
	Multiplex/Array Assay Kits & Reagents		ELISpot Kits & Development Modules
	Recombinant & Natural Proteins

	Recombinant Proteins (LARGE)
	Search for Antibodies
	Search for Chimera RNAi
	Custom Service for Mouse Mab
	Custom Service for Rabbit Pab from Full-length Protein

Search for Antibodies & Assays

	Search for Recombinant Proteins
	Search for Antibodies

Search OriGene for LARGE

Search Tocris compounds for LARGE

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

Search Novus for antibodies for LARGE

GeneCards Homepage - Last full update: 2 Jul 2009 Incremental update: 13 Oct 2009

Random Gene From GIFtS :

about GIFtS

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

Developed at the Crown Human Genome Center & Weizmann Institute of Science

The GeneCards Human Gene Database: Copyright © 1996-2009, Weizmann Institute of Science. All Rights Reserved.
LARGE Gene at Home site.
Version 2.41.1
server5.xennexinc.com

LARGE Gene

protein-coding GIFtS: 65

Aliases &
Descriptions
for LARGE

Summaries
for LARGE

Genomic Location
for LARGE

Proteins
for LARGE

Protein Domains/
Families
for LARGE

Gene Function
for LARGE

Pathways & Interactions
for LARGE

Drugs & Compounds
for LARGE

Transcripts
for LARGE

Expression
for LARGE

Orthologs
for LARGE

Paralogs
for LARGE

SNPs/Variants
for LARGE

Disorders & Mutations
for LARGE

Medical News
for LARGE

Publications
for LARGE

Search for LARGE

Genome Databases showing LARGE

Other Databases showing LARGE

Specialized Databases showing LARGE

Licensable Technologies
for LARGE

Services
for LARGE

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

LARGE Gene

protein-coding GIFtS: 65

Aliases & Descriptionsfor LARGE

Summariesfor LARGE

Genomic Locationfor LARGE

Proteinsfor LARGE

Protein Domains/Familiesfor LARGE

Gene Functionfor LARGE

Pathways & Interactionsfor LARGE

Drugs & Compoundsfor LARGE

Transcriptsfor LARGE

Expression for LARGE

Orthologsfor LARGE

Paralogsfor LARGE

SNPs/Variantsfor LARGE

Disorders & Mutationsfor LARGE

Medical Newsfor LARGE

Publicationsfor LARGE

Search for LARGE

Genome Databases showing LARGE

Other Databases showing LARGE

Specialized Databases showing LARGE

Licensable Technologiesfor LARGE

Servicesfor LARGE

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 LARGE

Summaries
for LARGE

Genomic Location
for LARGE

Proteins
for LARGE

Protein Domains/
Families
for LARGE

Gene Function
for LARGE

Pathways & Interactions
for LARGE

Drugs & Compounds
for LARGE

Transcripts
for LARGE

Expression
for LARGE

Orthologs
for LARGE

Paralogs
for LARGE

SNPs/Variants
for LARGE

Disorders & Mutations
for LARGE

Medical News
for LARGE

Publications
for LARGE

Licensable Technologies
for LARGE

Services
for LARGE