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Aliases & Descriptions for KIT
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases C-Kit 1 , 2 CD117 1 , 2 EC 2.7.10.1 3 PBT 2 , 5 SCFR 1 , 2 , 3 c-kit 3
Descriptions CD117 antigen 3 Proto-oncogene tyrosine-protein kinase Kit 2 , 3 mast/stem cell growth factor receptor 2 piebald trait 1 soluble KIT variant 1 2 v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog 2
Search outside databases for aliases for KIT genePrevious GC identifers: GC04P055328 GC04P055485 GC04P055439 GC04P055365
Summaries for KIT (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for KIT : This gene encodes the human homolog of the proto-oncogene c-kit. C-kit was first identified as thecellular homolog of the feline sarcoma viral oncogene v-kit. This protein is a type 3transmembrane receptor for MGF (mast cell growth factor, also known as stem cell factor).Mutations in this gene are associated with gastrointestinal stromal tumors, mast cell disease,acute myelogenous lukemia, and piebaldism. Multiple transcript variants encoding differentisoforms have been found for this gene. [provided by RefSeq] UniProtKB/Swiss-Prot: KIT_HUMAN, P10721 Function : This is the receptor for stem cell factor (mast cell growth factor). It has atyrosine-protein kinase activity. Binding of the ligands leads to the autophosphorylation of KITand its association with substrates such as phosphatidylinositol 3-kinase (Pi3K)
Gene Wiki entry for KIT (CD117)
Genomic Location for KIT
(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
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the KIT gene Entrez Gene cytogenetic band: 4q11-q12 Ensembl cytogenetic band: 4q12 HGNC cytogenetic band: 4q11-q12 KIT 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 4 GeneLoc Exon Structure
GeneLoc location for GC04P055218:
(about GC identifiers )
Start:
55,218,852 bp from pter
End:
55,301,638 bp from pter
Size:
82,787 bases
Orientation:
plus strand
RefSeq DNA sequence: NC_000004.10 NT_022853.14 Proteins for KIT
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
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: KIT_HUMAN, P10721 (See
protein sequence )Recommended Name: Mast/stem cell growth factor receptor precursor Size : 976 amino acids; 109865 Da
Subunit : Interacts with APS. Interacts with MPDZ (via the tenth PDZ domain). Interacts with PTPRU
Subcellular location : Membrane; Single-pass type I membrane protein
PDB structures from and Proteopedia : 1PKG (3D)
 1QZJ (3D)
 1QZK (3D)
 1R01 (3D)
 1T45 (3D)
 1T46 (3D)
 2E9W (3D)
 2EC8 (3D)
 2VIF (3D)
 3G0E (3D)
 3G0F (3D)
 
Secondary accessions : Q9UM99
Post-translational modifications:
View phosphorylation sites using PhosphoSite 2
REFSEQ proteins (2 alternative transcripts):
NP_000213.1 NP_001087241.1 ENSEMBL proteins: ENSP00000288135 Human Recombinant Proteins Invitrogen human recombinant proteins for KIT Millipore Purified and/or Recombinant KIT Protein Sigma-Aldrich Proteins for KIT R&D Systems Recombinant & Natural Proteins for KIT (SCF R/c-kit) Enzo Life Sciences proteins for KIT Recombinant Proteins from Abcam (c-Kit ) Human Recombinant Proteins from Abnova (KIT )
Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 5/6 Gene Ontology (GO) cellular component terms (links to tree view) (see all 6
):
About this table Antibodies for KIT: Invitrogen Antibodies for KIT Millipore Mono- and Polyclonal Antibodies for the study of KIT Sigma-Aldrich Antibodies for KIT R&D Systems Antibodies for KIT (SCF R/c-kit) Cell Signaling Technology (CST) Antibodies for KIT   (c-Kit) Antibodies from Abcam (c-Kit ), each with their Abpromise SM Monoclonal and Polyclonal Antibodies from Abnova (KIT ) Novus Biologicals Antibodies for KIT
Assays for KIT:
Protein
Domains/ Families for KIT(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 P10721 ProtoNet protein and cluster: P10721
3 Blocks protein families : IPB001824 Receptor tyrosine kinase IPB003598 Immunoglobulin C-2 type IPB008266 Tyrosine protein kinase UniProtKB/Swiss-Prot: KIT_HUMAN, P10721 Similarity : Belongs to the protein kinase superfamily. Tyr protein kinase family. CSF-1/PDGFreceptor subfamily Similarity : Contains 5 Ig-like C2-type (immunoglobulin-like) domainsSimilarity : Contains 1 protein kinase domain
Gene Function for KIT
(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 .)
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Inhib. RNA: Invitrogen RNAi Products for gene knock-down (KIT ) Millipore RNAi Products for the Analysis of KIT Gene knock-down Abnova Chimera RNAi Products for Gene knock-down (KIT )
               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_001093772 Applied Biosystems Silencer ® siRNAs for KIT Sigma-Aldrich siRNA and siRNA Panels for KIT Sigma-Aldrich shRNA Panels and shRNA for KIT Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_000222                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_000222                                  untagged cDNA clones in CMV expression vector (see all 3 ): NM_000222  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_000222 UniProtKB/Swiss-Prot: KIT_HUMAN, P10721 Function : This is the receptor for stem cell factor (mast cell growth factor). It has atyrosine-protein kinase activity. Binding of the ligands leads to the autophosphorylation of KITand its association with substrates such as phosphatidylinositol 3-kinase (Pi3K) Catalytic activity : ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphateEnzyme Number (IUBMB): EC 2.7.10.1
Genatlas biochemistry entry for KIT :Hardy-Zuckerman 4 feline sarcoma viral (v-kit or c-kit) oncogene homolog,homologous to murinedominant spotting,involved in melanogenesis
15/26 MGI mutant phenotypes (inferred from 97 alleles ) (MGI details for Kit) (see all 26
):5/7 Gene Ontology (GO) molecular function terms (links to tree view) (see all 7
):
About this table
Pathways & Interactions for KIT
(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 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
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 KIT (Your Favorite Gene powered by Ingenuity) Gene Network CentralTM Interacting Genes and Proteins Network for KIT 2 Interacting proteins for KIT (P10721 1 ) via UniProtKB, MINT, and/or STRING About this table 5/13 Gene Ontology (GO) biological process terms (links to tree view) (see all 13
):
About this table
Drugs & Compounds for KIT (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 )
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Sigma-Aldrich Small Molecules for KIT:Inhibitor
Browse Tocris compounds for KIT 10/41 Novoseek chemical compound relationships for KIT gene (see all 41
)
Compound
Score
Articles
PubMed IDs for Articles with Shared Sentences (# sentences)
tyrosine
88.81
898
16287490 (7), 9528781 (5), 12600228 (4), 17949810 (4) (see all 99 )
mln 518
68.62
12
15304388 (4), 15242881 (3), 16902153 (1)
ag-1296
63.06
7
7954456 (1), 12512837 (1), 17654122 (1)
beta-tyrosine
60.62
3
10786682 (1), 17272980 (1), 14871970 (1)
su6668
60.58
5
11222388 (3), 16144927 (1), 12888313 (1)
amn107
56.69
6
16797704 (3), 16189265 (2), 17363509 (1)
17-(allylamino)-17-demethoxygeldanamycin
51.55
4
16213582 (2), 18399173 (1), 14551138 (1)
phosphatidylinositol
40.90
24
1372092 (2), 14695343 (1), 9092574 (1), 17452978 (1) (see all 15 )
monochloroacetic acid
37.20
6
9140315 (2), 9273545 (1), 12436291 (1)
toluidine
35.46
11
10432289 (2), 16334197 (1), 18500266 (1), 12826896 (1) (see all 6 )
About this table
Transcripts for KIT(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
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Inhib. RNA: Invitrogen RNAi Products for gene knock-down (KIT ) Millipore RNAi Products for the Analysis of KIT Gene knock-down Abnova Chimera RNAi Products for Gene knock-down (KIT )
               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_001093772 Sigma-Aldrich siRNA and siRNA Panels for KIT Sigma-Aldrich shRNA Panels and shRNA for KIT Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_000222 NM_001093772
REFSEQ mRNAs for KIT gene (2 alternative transcripts): NM_000222.2 NM_001093772.1
Applied Biosystems TaqMan ® Gene Expression Assays: NM_000222 NM_001093772
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_000222                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_000222                                  untagged cDNA clones in CMV expression vector (see all 3 ): NM_000222  
Additional cDNA sequence: AJ438313.1 AK304031.1 BC071593.1 EU826594.1 X06182.1
1 DOTS entry : DT.115605
24/95 AceView cDNA sequences (see all 95
):AI567693 AW468784 BM713257 AI674108 AA481776 AI567686 AW264522 BX642234 AI308810 AI696267 AU108050 AI143554 BX955809 BC071593 BX478628 BM971784 AW271802 AW244098 AJ438313 AI890068 AU100291 AW949528 AA873164 AI355325
highest scoring ESTs for KIT :X06182 AA143045 AA403148 AA481776 AI674108 AL048483 AW879367 AW879393 AW879433 AW949528
Unigene Cluster for KIT: V-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog Hs.479754 [show with all ESTs ] Unigene Representative Sequence: NM_000222 GeneLoc Exon Structure 5/6 Alternative Splicing Database (ASD) splice patterns (SP) for KIT (see all 6
) ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15 ^ 16a · 16b ^ 17a · 17b ^ SP1 :     -                                   -             -   SP2 :                                       -               SP3 :                                                     SP4 :                         -                             SP5 :                                                    
ExUns: 18 ^ 19 ^ 20 ^ 21 SP1 :         SP2 :         SP3 :         SP4 :         SP5 :        
About this scheme ECgene alternative splicing isoforms for KIT 1 Ensembl transcript including schematic representation : ENST00000288135
Expression for KIT
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
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
)
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KIT expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for KIT 1 / 2 / 3
3 probe-sets matching KIT gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: AGTCCTTGAASOURCE GeneReport for Unigene cluster: Hs.479754 Expression variation in blood from EXPOLDB for KIT
Orthologs for KIT
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for KIT gene from 5/11 species (see all 11
)
About this table Species with no ortholog for KIT ENSEMBL Gene Tree for KIT Paralogs for KIT (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for KIT gene CSF1R 2 FLT3 2
SNPs/Variants for KIT (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for KIT (up to first 250kb)
Disorders & Mutations for KIT
(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 .)
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OMIM: 164920 UniProtKB/Swiss-Prot: KIT_HUMAN, P10721
Defects in KIT are a cause of piebaldism [MIM:172800]. Piebaldism is an autosomal dominantgenetic developmental abnormality of pigmentation characterized by congenital patches of whiteskin and hair that lack melanocytes Defects in KIT are a cause of gastrointestinal stromal tumor (GIST) [MIM:606764] Defects in KIT have been associated with testicular tumors [MIM:273300]. It includes germcell tumor (GCT) or testicular germ cell tumor (TGCT)
10/94 Novoseek disease relationships for KIT gene (see all 94
)
Disease
Score
Articles
PubMed IDs for Articles with Shared Sentences (# sentences)
gastrointestinal stromal tumor
97.55
392
11073817 (3), 18657298 (3), 18715619 (3), 11065242 (2) (see all 99 )
mastocytosis
89.57
146
9990072 (6), 15858149 (5), 9519779 (4), 7479840 (4) (see all 73 )
mastocytosis systemic
88.80
54
11380399 (3), 18500355 (2), 10632491 (2), 10721793 (1) (see all 33 )
leukemia mast cell
85.42
24
17949810 (5), 16093434 (2), 7536501 (1), 10910906 (1) (see all 12 )
stromal tumors
83.10
32
18777214 (2), 15012791 (2), 15507676 (2), 16258510 (1) (see all 19 )
piebaldism
82.91
46
11174389 (4), 15194144 (4), 1279971 (3), 7534102 (3) (see all 23 )
carney triad
77.20
3
17549339 (1), 18312355 (1), 17021135 (1)
tumors
75.86
978
12759497 (8), 15542802 (6), 15812822 (6), 19035443 (6) (see all 99 )
myeloid leukemia chronic
75.49
45
12480706 (1), 15126530 (1), 16143881 (1), 11840282 (1) (see all 38 )
smooth muscle tumor
75.33
14
11127756 (1), 16400320 (1), 17193824 (1), 9916918 (1) (see all 11 )
About this table Human Gene Mutation Database : KIT Genetic Association Database: KIT Human Genome Epidemiology Navigator: KIT (162 documents) Tumor Gene Database : KIT Breast Cancer Gene Database : KIT
Medical News for KIT (Possibly Related Articles in
Doctor's Guide )
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Publications for KIT (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/1462 PubMed articles for KIT gene (see all 1462
): Sequence analysis of two genomic regions containing the KIT and the FMS receptor tyrosine kinase genes. (PubMed id 9027509) 1, 2, 3, 4 Andre C.... Galibert F. (1997) Deletions affecting codons 557-558 of the c-KIT gene indicate a poor prognosis in patients with completely resected gastrointestinal stromal tumors: a study by the Spanish Group for Sarcoma Research (GEIS). (PubMed id 16135486) 1, 3, 6 Martin J....Buesa J.M. (2005) Novel mutations of the KIT (mast/stem cell growth factor receptor) proto-oncogene in human piebaldism. (PubMed id 7687267) 1, 3, 4 Spritz R.A.... Kuester W. (1993) Human piebald trait resulting from a dominant negative mutant allele of the c-kit membrane receptor gene. (PubMed id 1376329) 1, 3, 4 Fleischman R.A. (1992) Mutation of the KIT (mast/stem cell growth factor receptor) protooncogene in human piebaldism. (PubMed id 1717985) 1, 3, 4 Giebel L.B. and Spritz R.A. (1991) Nucleophosmin gene mutations are predictors of favorable prognosis in acute myelogenous leukemia with a normal karyotype. (PubMed id 16076867) 1, 3, 6 Schnittger S....Falini B. (2005) Activating c-kit gene mutations in human germ cell tumors. (PubMed id 10362788) 1, 3, 4 Tian Q.... Moskaluk C.A. (1999) Activating and dominant inactivating c-KIT catalytic domain mutations in distinct clinical forms of human mastocytosis. (PubMed id 9990072) 1, 3, 4 Longley B.J. Jr.... Ma Y. (1999) Piebaldism with deafness: molecular evidence for an expanded syndrome. (PubMed id 9450866) 1, 3, 4 Spritz R.A. and Beighton P. (1998) Identification of a point mutation in the catalytic domain of the protooncogene c-kit in peripheral blood mononuclear cells of patients who have mastocytosis with an associated hematologic disorder. (PubMed id 7479840) 1, 3, 6 Nagata H....Metcalfe D.D. (1995)
Search for KIT
(in PubMed ,
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Genome Databases showing KIT
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing KIT
(According to HUGE )
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--
Specialized Databases showing KIT (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
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-- Services for KIT (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
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Products for KIT:
Antibodies & Assays for KIT   (c-Kit)
Search Tocris compounds for KIT
Antibodies for KIT
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GeneCards Homepage - Last full update: 2 Jul 2009
Incremental update: 13 Oct 2009