CDC6 Gene (Protein Coding)

Cell Division Cycle 6

GC17P040287
GIFtS:
45
The protein encoded by this gene is highly similar to Saccharomyces cerevisiae Cdc6, a protein essential for the initiation of DNA replication. This protein functions as a regulator at the early steps of DNA replication. It localizes in cell nucleus during cell cyle G1, but translocates to the cytoplasm at the start of S phase. The subcellular translocation of this protein duri... See more...

Aliases for CDC6 Gene

Aliases for CDC6 Gene

  • Cell Division Cycle 6 2 3 5
  • Cell Division Control Protein 6 Homolog 3 4
  • Cdc18-Related Protein 3 4
  • CDC6-Related Protein 3 4
  • P62(Cdc6) 3 4
  • CDC18L 3 4
  • HsCDC6 3 4
  • CDC6 (Cell Division Cycle 6, S. Cerevisiae) Homolog 2
  • CDC6 Cell Division Cycle 6 Homolog (S. Cerevisiae) 2
  • Cell Division Cycle 6 Homolog (S. Cerevisiae) 2
  • CDC6 Cell Division Cycle 6 Homolog 3
  • Cell Division Cycle 6 Homolog 3
  • HsCDC18 3
  • HsCdc18 4
  • MGORS5 3
  • CDC6 5

External Ids for CDC6 Gene

Previous HGNC Symbols for CDC6 Gene

  • CDC18L

Previous GeneCards Identifiers for CDC6 Gene

  • GC17P037939
  • GC17P040619
  • GC17P038352
  • GC17P038817
  • GC17P035697
  • GC17P038443
  • GC17P034237

Summaries for CDC6 Gene

Entrez Gene Summary for CDC6 Gene

  • The protein encoded by this gene is highly similar to Saccharomyces cerevisiae Cdc6, a protein essential for the initiation of DNA replication. This protein functions as a regulator at the early steps of DNA replication. It localizes in cell nucleus during cell cyle G1, but translocates to the cytoplasm at the start of S phase. The subcellular translocation of this protein during cell cyle is regulated through its phosphorylation by Cdks. Transcription of this protein was reported to be regulated in response to mitogenic signals through transcriptional control mechanism involving E2F proteins. [provided by RefSeq, Jul 2008]

GeneCards Summary for CDC6 Gene

CDC6 (Cell Division Cycle 6) is a Protein Coding gene. Diseases associated with CDC6 include Meier-Gorlin Syndrome 5 and Meier-Gorlin Syndrome 1. Among its related pathways are Regulation of activated PAK-2p34 by proteasome mediated degradation and E2F transcription factor network. Gene Ontology (GO) annotations related to this gene include nucleotide binding and kinase binding. An important paralog of this gene is ORC1.

UniProtKB/Swiss-Prot Summary for CDC6 Gene

  • Involved in the initiation of DNA replication. Also participates in checkpoint controls that ensure DNA replication is completed before mitosis is initiated.

Gene Wiki entry for CDC6 Gene

Additional gene information for CDC6 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CDC6 Gene

Genomics for CDC6 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for CDC6 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CDC6 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CDC6

Top Transcription factor binding sites by QIAGEN in the CDC6 gene promoter:
  • AP-1
  • ATF
  • c-Fos
  • c-Jun
  • HNF-4alpha1
  • Nkx2-5
  • NRSF form 1
  • NRSF form 2
  • SRF
  • SRF (504 AA)

Genomic Locations for CDC6 Gene

Genomic Locations for CDC6 Gene
chr17:40,287,878-40,304,657
(GRCh38/hg38)
Size:
16,780 bases
Orientation:
Plus strand
chr17:38,443,885-38,459,413
(GRCh37/hg19)
Size:
15,529 bases
Orientation:
Plus strand

Genomic View for CDC6 Gene

Genes around CDC6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CDC6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CDC6 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for CDC6 Gene

Proteins for CDC6 Gene

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  3. Assay

  • Protein details for CDC6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99741-CDC6_HUMAN
    Recommended name:
    Cell division control protein 6 homolog
    Protein Accession:
    Q99741
    Secondary Accessions:
    • Q8TB30

    Protein attributes for CDC6 Gene

    Size:
    560 amino acids
    Molecular mass:
    62720 Da
    Quaternary structure:
    • Interacts with PCNA, ORC1, cyclin-CDK (PubMed:9566895). Interacts with HUWE1 (PubMed:17567951). Interacts with ANKRD17 (PubMed:23711367). Interacts with GRWD1; origin binding of GRWD1 is dependent on CDC6 (PubMed:25990725). Interacts with CDT1; are mutually dependent on one another for loading MCM complexes onto chromatin (PubMed:14672932). Interacts with TTC4 (PubMed:18320024).

    Three dimensional structures from OCA and Proteopedia for CDC6 Gene

neXtProt entry for CDC6 Gene

Protein Expression for CDC6 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for CDC6 Gene

  • Ubiquitination at Lys208
  • Modification sites at PhosphoSitePlus

Other Protein References for CDC6 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CDC6 Gene

Domains & Families for CDC6 Gene

Gene Families for CDC6 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for CDC6 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CDC6 Gene

GenScript: Design optimal peptide antigens:
  • p62(cdc6) (CDC6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q99741

UniProtKB/Swiss-Prot:

CDC6_HUMAN :
  • Belongs to the CDC6/cdc18 family.
Family:
  • Belongs to the CDC6/cdc18 family.
genes like me logo Genes that share domains with CDC6: view

Function for CDC6 Gene

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  2. CRISPR
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Molecular function for CDC6 Gene

UniProtKB/Swiss-Prot Function:
Involved in the initiation of DNA replication. Also participates in checkpoint controls that ensure DNA replication is completed before mitosis is initiated.
GENATLAS Biochemistry:
cell division cycle 6,S cerevisiae homolog,selectively expressed in proliferating but not quiescent cell,regulated by E2F proteins,required for the initiation of DNA replication ,ORC1 homolog

Phenotypes From GWAS Catalog for CDC6 Gene

Gene Ontology (GO) - Molecular Function for CDC6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding TAS 8990175
GO:0003688 DNA replication origin binding IBA 21873635
GO:0005515 protein binding IPI 14672932
GO:0005524 ATP binding IEA --
GO:0019900 kinase binding IPI 21041660
genes like me logo Genes that share ontologies with CDC6: view
genes like me logo Genes that share phenotypes with CDC6: view

Human Phenotype Ontology for CDC6 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CDC6

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for CDC6 Gene

Localization for CDC6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CDC6 Gene

Nucleus. Cytoplasm. Note=The protein is nuclear in G1 and cytoplasmic in S-phase cells (PubMed:9566895). {ECO:0000269 PubMed:9566895}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CDC6 gene
Compartment Confidence
nucleus 5
cytosol 5
cytoskeleton 4
plasma membrane 2
extracellular 2
mitochondrion 2
golgi apparatus 2
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytokinetic bridge (3)
  • Cytosol (3)
  • Mitotic spindle (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CDC6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000922 spindle pole IDA 21041660
GO:0005634 nucleus TAS,IDA 21041660
GO:0005654 nucleoplasm TAS --
GO:0005730 NOT nucleolus IDA 21383955
GO:0005737 cytoplasm TAS 9566895
genes like me logo Genes that share ontologies with CDC6: view

Pathways & Interactions for CDC6 Gene

genes like me logo Genes that share pathways with CDC6: view

Pathways by source for CDC6 Gene

3 BioSystems pathways for CDC6 Gene
1 KEGG pathway for CDC6 Gene
2 GeneGo (Thomson Reuters) pathways for CDC6 Gene
  • Cell cycle Start of DNA replication in early S phase
  • Cell cycle_Role of APC in cell cycle regulation
2 Qiagen pathways for CDC6 Gene
  • Cell Cycle Control of Chromosomal Replication
  • Factors Promoting Cardiogenesis in Vertebrates
1 Cell Signaling Technology pathway for CDC6 Gene

SIGNOR curated interactions for CDC6 Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for CDC6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000076 DNA replication checkpoint TAS 9566895
GO:0000079 regulation of cyclin-dependent protein serine/threonine kinase activity TAS 9566895
GO:0000082 G1/S transition of mitotic cell cycle TAS --
GO:0000083 regulation of transcription involved in G1/S transition of mitotic cell cycle TAS --
GO:0000278 mitotic cell cycle IMP 22581055
genes like me logo Genes that share ontologies with CDC6: view

Drugs & Compounds for CDC6 Gene

Products:

  1. Drug

(3) Drugs for CDC6 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(3) Additional Compounds for CDC6 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CDC6: view

Transcripts for CDC6 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for CDC6 Gene

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CDC6

Alternative Splicing Database (ASD) splice patterns (SP) for CDC6 Gene

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

Relevant External Links for CDC6 Gene

GeneLoc Exon Structure for
CDC6

Expression for CDC6 Gene

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  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CDC6 Gene

mRNA expression in normal human tissues for CDC6 Gene
mRNA expression by BioGPS for CDC6 GenemRNA expression by GTEx for CDC6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CDC6 Gene

This gene is overexpressed in Testis (x4.2).

Protein differential expression in normal tissues from HIPED for CDC6 Gene

This gene is overexpressed in Monocytes (38.4) and Tlymphocyte (29.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CDC6 Gene



Protein tissue co-expression partners for CDC6 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CDC6

SOURCE GeneReport for Unigene cluster for CDC6 Gene:

Hs.405958

Evidence on tissue expression from TISSUES for CDC6 Gene

  • Nervous system(4.6)
  • Intestine(2.5)
  • Skin(2.5)
  • Kidney(2.1)
  • Lung(2.1)
  • Lymph node(2.1)
  • Liver(2.1)
  • Muscle(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CDC6 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • inner ear
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • skull
  • tongue
  • tooth
  • vocal cord
Thorax:
  • breast
  • bronchus
  • chest wall
  • clavicle
  • esophagus
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • trachea
Abdomen:
  • stomach
Pelvis:
  • pelvis
  • penis
  • testicle
  • uterus
  • vagina
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • hair
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with CDC6: view

No data available for mRNA Expression by UniProt/SwissProt for CDC6 Gene

Orthologs for CDC6 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CDC6 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia CDC6 30 31
  • 99.82 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia CDC6 30 31
  • 90.48 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia CDC6 30 31
  • 89.88 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Cdc6 30 17 31
  • 82.41 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Cdc6 30
  • 81.57 (n)
Oppossum
(Monodelphis domestica)
 Mammalia CDC6 31
  • 76 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia CDC6 31
  • 68 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves LOC100857489 30
  • 57.86 (n)
CDC6 31
  • 55 (a)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia CDC6 31
  • 61 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia cdc6 30
  • 63.33 (n)
Str.8648 30
African clawed frog
(Xenopus laevis)
 Amphibia Xcdc6 30
Zebrafish
(Danio rerio)
 Actinopterygii cdc6 30 31
  • 55.04 (n)
 OneToOne
Dr.3850 30
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.2444 30
Fruit Fly
(Drosophila melanogaster)
 Insecta Cdc6 30 31
  • 50.76 (n)
 OneToOne
CG5971 32
  • 42 (a)
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP005176 30
  • 48.56 (n)
Worm
(Caenorhabditis elegans)
 Secernentea cdc-6 31
  • 25 (a)
 OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes CDC6 31 33
  • 24 (a)
 OneToMany
Thale Cress
(Arabidopsis thaliana)
 eudicotyledons CDC6 30
  • 44.75 (n)
Rice
(Oryza sativa)
 Liliopsida Os01g0856000 30
  • 45.51 (n)
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.8705 31
  • 48 (a)
 OneToOne
Species where no ortholog for CDC6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for CDC6 Gene

ENSEMBL:
Gene Tree for CDC6 (if available)
TreeFam:
Gene Tree for CDC6 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CDC6: view image

Paralogs for CDC6 Gene

Paralogs for CDC6 Gene

genes like me logo Genes that share paralogs with CDC6: view

Variants for CDC6 Gene

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  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CDC6 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
771207 Likely Benign: not provided 40,293,965(+) C/T SYNONYMOUS_VARIANT
789452 Likely Benign: not provided 40,295,465(+) C/T INTRON_VARIANT
795147 Likely Benign: not provided 40,291,519(+) C/A SYNONYMOUS_VARIANT
796290 Likely Benign: not provided 40,294,401(+) A/G SYNONYMOUS_VARIANT
808259 Uncertain Significance: not provided 40,289,568(+) G/C MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for CDC6 Gene

Structural Variations from Database of Genomic Variants (DGV) for CDC6 Gene

Variant ID Type Subtype PubMed ID
nsv1146669 OTHER inversion 26484159

Variation tolerance for CDC6 Gene

Residual Variation Intolerance Score: 14.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.91; 89.78% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CDC6 Gene

Human Gene Mutation Database (HGMD)
CDC6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CDC6

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CDC6 Gene

Disorders for CDC6 Gene

MalaCards: The human disease database

(14) MalaCards diseases for CDC6 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search CDC6 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CDC6_HUMAN
  • Meier-Gorlin syndrome 5 (MGORS5) [MIM:613805]: A syndrome characterized by bilateral microtia, aplasia/hypoplasia of the patellae, and severe intrauterine and postnatal growth retardation with short stature and poor weight gain. Additional clinical findings include anomalies of cranial sutures, microcephaly, apparently low-set and simple ears, microstomia, full lips, highly arched or cleft palate, micrognathia, genitourinary tract anomalies, and various skeletal anomalies. While almost all cases have primordial dwarfism with substantial prenatal and postnatal growth retardation, not all cases have microcephaly, and microtia and absent/hypoplastic patella are absent in some. Despite the presence of microcephaly, intellect is usually normal. {ECO:0000269 PubMed:21358632}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for CDC6

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with CDC6: view

No data available for Genatlas for CDC6 Gene

Publications for CDC6 Gene

  1. A novel polymorphism in CDC6 is associated with the decline in lung function of ex-smokers in COPD. (PMID: 19233139) Takabatake N … Kubota I (Biochemical and biophysical research communications 2009) 3 23 41
  2. Association analysis between the Cdc6 G1321A polymorphism and the risk for non-Hodgkin lymphoma and hepatocellular carcinoma. (PMID: 19101572) Xiong XD … Zhuang SM (Mutation research 2009) 3 23 41
  3. The human TPR protein TTC4 is a putative Hsp90 co-chaperone which interacts with CDC6 and shows alterations in transformed cells. (PMID: 18320024) Crevel G … Cotterill S (PloS one 2008) 3 4 23
  4. Human CDC6/Cdc18 associates with Orc1 and cyclin-cdk and is selectively eliminated from the nucleus at the onset of S phase. (PMID: 9566895) Saha P … Dutta A (Molecular and cellular biology 1998) 2 3 4
  5. A human protein related to yeast Cdc6p. (PMID: 8990175) Williams RS … Stillman B (Proceedings of the National Academy of Sciences of the United States of America 1997) 2 3 4

ExternalLinks

View latest publications for CDC6 gene in Mastermind

Products for CDC6 Gene