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Aliases for PAX6 Gene

Aliases for PAX6 Gene

  • Paired Box 6 2 3 5
  • Aniridia Type II Protein 3 4
  • Oculorhombin 3 4
  • AN2 3 4
  • Paired Box Gene 6 (Aniridia, Keratitis) 2
  • Paired Box Homeotic Gene-6 3
  • Paired Box Protein Pax-6 3
  • Aniridia, Keratitis 2
  • D11S812E 3
  • WAGR 3
  • FVH1 3
  • MGDA 3
  • AN 3

External Ids for PAX6 Gene

Previous HGNC Symbols for PAX6 Gene

  • AN2

Previous GeneCards Identifiers for PAX6 Gene

  • GC11M033407
  • GC11M032586
  • GC11M031849
  • GC11M031775
  • GC11M031768
  • GC11M031501

Summaries for PAX6 Gene

Entrez Gene Summary for PAX6 Gene

  • This gene encodes a homeobox and paired domain-containing protein that binds DNA and functions as a regulator of transcription. Activity of this protein is key in the development of neural tissues, particularly the eye. This gene is regulated by multiple enhancers located up to hundreds of kilobases distant from this locus. Mutations in this gene or in the enhancer regions can cause ocular disorders such as aniridia and Peter's anomaly. Use of alternate promoters and alternative splicing result in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2015]

GeneCards Summary for PAX6 Gene

PAX6 (Paired Box 6) is a Protein Coding gene. Diseases associated with PAX6 include Coloboma Of Optic Nerve and Peters Anomaly. Among its related pathways are Incretin synthesis, secretion, and inactivation and Regulation of beta-cell development. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and chromatin binding. An important paralog of this gene is PAX4.

UniProtKB/Swiss-Prot for PAX6 Gene

  • Transcription factor with important functions in the development of the eye, nose, central nervous system and pancreas. Required for the differentiation of pancreatic islet alpha cells (By similarity). Competes with PAX4 in binding to a common element in the glucagon, insulin and somatostatin promoters. Regulates specification of the ventral neuron subtypes by establishing the correct progenitor domains (By similarity). Isoform 5a appears to function as a molecular switch that specifies target genes.

Gene Wiki entry for PAX6 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PAX6 Gene

Genomics for PAX6 Gene

Regulatory Elements for PAX6 Gene

Enhancers for PAX6 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11F031794 1.6 VISTA 17.6 +22.1 22073 2.0 PKNOX1 DEAF1 KLF17 FEZF1 ZEB1 ZNF335 GLIS2 ZNF366 SP3 ZBTB11 PAX6 DCDC1 GC11P031784 RCN1
GH11F031863 1.1 ENCODE 10.8 -45.7 -45676 1.1 PAX6 RCN1 GC11P031876 GC11M031843
GH11F031819 0.5 FANTOM5 ENCODE 9.7 -2.1 -2061 0.4 RING1 CBX8 RNF2 SUZ12 CBX2 EZH2 PAX6 GC11P031819 GC11P031824
GH11F032072 0.5 FANTOM5 1.8 -253.8 -253791 0.0 PKNOX1 LOC100506675 PAX6 ENSG00000254627 GC11P032081
GH11F031429 0.8 FANTOM5 1.8 +388.7 388710 0.1 DNAJC24 PAX6 ELP4 IMMP1L GC11M031425
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around PAX6 on UCSC Golden Path with GeneCards custom track

Promoters for PAX6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001767668 1061 201 KLF1 MAZ SP3 SUZ12 RNF2 CBX2 SP2 ZBTB8A ZEB1 E2F1

Genomic Location for PAX6 Gene

Chromosome:
11
Start:
31,784,792 bp from pter
End:
31,817,961 bp from pter
Size:
33,170 bases
Orientation:
Minus strand

Genomic View for PAX6 Gene

Genes around PAX6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PAX6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PAX6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PAX6 Gene

Proteins for PAX6 Gene

  • Protein details for PAX6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P26367-PAX6_HUMAN
    Recommended name:
    Paired box protein Pax-6
    Protein Accession:
    P26367
    Secondary Accessions:
    • Q6N006
    • Q99413

    Protein attributes for PAX6 Gene

    Size:
    422 amino acids
    Molecular mass:
    46683 Da
    Quaternary structure:
    • Interacts with MAF and MAFB. Interacts with TRIM11; this interaction leads to ubiquitination and proteasomal degradation, as well as inhibition of transactivation, possibly in part by preventing PAX6 binding to consensus DNA sequences.

    Three dimensional structures from OCA and Proteopedia for PAX6 Gene

    Alternative splice isoforms for PAX6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PAX6 Gene

Post-translational modifications for PAX6 Gene

  • Ubiquitinated by TRIM11, leading to ubiquitination and proteasomal degradation.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PAX6 Gene

Domains & Families for PAX6 Gene

Graphical View of Domain Structure for InterPro Entry

P26367

UniProtKB/Swiss-Prot:

PAX6_HUMAN :
  • Contains 1 homeobox DNA-binding domain.
  • Belongs to the paired homeobox family.
Domain:
  • Contains 1 homeobox DNA-binding domain.
  • Contains 1 paired domain.
Family:
  • Belongs to the paired homeobox family.
genes like me logo Genes that share domains with PAX6: view

Function for PAX6 Gene

Molecular function for PAX6 Gene

GENATLAS Biochemistry:
paired box (DNA binding) containing protein 6,with homeo domain,expressed in the central nervous system and endocrine pancreas,key regulator of eye development and regulator of glial precursors in the ventral neural tube
UniProtKB/Swiss-Prot Function:
Transcription factor with important functions in the development of the eye, nose, central nervous system and pancreas. Required for the differentiation of pancreatic islet alpha cells (By similarity). Competes with PAX4 in binding to a common element in the glucagon, insulin and somatostatin promoters. Regulates specification of the ventral neuron subtypes by establishing the correct progenitor domains (By similarity). Isoform 5a appears to function as a molecular switch that specifies target genes.

Gene Ontology (GO) - Molecular Function for PAX6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IEA --
GO:0000979 RNA polymerase II core promoter sequence-specific DNA binding IDA 20592023
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding IDA 20592023
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding IEA --
GO:0001227 transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding IEA --
genes like me logo Genes that share ontologies with PAX6: view
genes like me logo Genes that share phenotypes with PAX6: view

Human Phenotype Ontology for PAX6 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PAX6 Gene

MGI Knock Outs for PAX6:

Animal Model Products

Targeted motifs for PAX6 Gene
HOMER Transcription Factor Regulatory Elements motif PAX6
  • Consensus sequence: NGTGTTCAVTSAAGCGKAAA Submotif: canonical Cell Type: Forebrain GEO ID: GSE66961

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) and Transcription Factor Targets for PAX6 Gene

Localization for PAX6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PAX6 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PAX6 Gene COMPARTMENTS Subcellular localization image for PAX6 gene
Compartment Confidence
nucleus 5
cytoskeleton 2
cytosol 2
extracellular 2
plasma membrane 1

Gene Ontology (GO) - Cellular Components for PAX6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin IDA 20592023
GO:0005622 intracellular IEA --
GO:0005634 nucleus IDA 17291498
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA 17291498
genes like me logo Genes that share ontologies with PAX6: view

Pathways & Interactions for PAX6 Gene

genes like me logo Genes that share pathways with PAX6: view

Gene Ontology (GO) - Biological Process for PAX6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IEA --
GO:0000132 establishment of mitotic spindle orientation IEA --
GO:0001568 blood vessel development IMP 7550230
GO:0001654 eye development TAS 10747901
GO:0001709 cell fate determination IEA --
genes like me logo Genes that share ontologies with PAX6: view

No data available for SIGNOR curated interactions for PAX6 Gene

Drugs & Compounds for PAX6 Gene

(8) Drugs for PAX6 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(4) Additional Compounds for PAX6 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PAX6: view

Transcripts for PAX6 Gene

Unigene Clusters for PAX6 Gene

Paired box 6:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PAX6 Gene

ExUns: 1 ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b · 5c · 5d ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15a · 15b · 15c · 15d ·
SP1: - - - - - - - - - - -
SP2: - - - - - - - - -
SP3: - - - - - -
SP4: - - - - - - - - - -
SP5: -
SP6: - - - - - - - - - - -
SP7: - - - - - - - - - - - -
SP8: - - - - -
SP9: - -
SP10:
SP11:
SP12: - - - - - - - - - - - - - -
SP13: - - - - - - - -
SP14: - - - - - - - - - - -
SP15:
SP16: - - - - - - - - - -
SP17: - - -
SP18: -
SP19: - - -
SP20:
SP21: -

ExUns: 15e ^ 16 ^ 17a · 17b · 17c ^ 18 ^ 19 ^ 20 ^ 21a · 21b · 21c ^ 22a · 22b ^ 23a · 23b ^ 24
SP1: - - -
SP2: - - -
SP3: - - -
SP4:
SP5: - - -
SP6:
SP7:
SP8: - -
SP9: - - -
SP10: - -
SP11:
SP12:
SP13:
SP14: - - - - - -
SP15: -
SP16:
SP17:
SP18:
SP19:
SP20:
SP21:

Relevant External Links for PAX6 Gene

GeneLoc Exon Structure for
PAX6
ECgene alternative splicing isoforms for
PAX6

Expression for PAX6 Gene

mRNA expression in normal human tissues for PAX6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PAX6 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x16.0) and Brain - Cerebellum (x13.3).

Protein differential expression in normal tissues from HIPED for PAX6 Gene

This gene is overexpressed in Retina (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PAX6 Gene



Protein tissue co-expression partners for PAX6 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PAX6 Gene:

PAX6

SOURCE GeneReport for Unigene cluster for PAX6 Gene:

Hs.270303

mRNA Expression by UniProt/SwissProt for PAX6 Gene:

P26367-PAX6_HUMAN
Tissue specificity: Fetal eye, brain, spinal cord and olfactory epithelium. Isoform 5a is less abundant than the PAX6 shorter form.
genes like me logo Genes that share expression patterns with PAX6: view

Primer Products

Orthologs for PAX6 Gene

This gene was present in the common ancestor of animals.

Orthologs for PAX6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PAX6 34 35
  • 99.15 (n)
cow
(Bos Taurus)
Mammalia PAX6 34 35
  • 97 (n)
mouse
(Mus musculus)
Mammalia Pax6 34 16 35
  • 94.34 (n)
rat
(Rattus norvegicus)
Mammalia Pax6 34
  • 93.68 (n)
oppossum
(Monodelphis domestica)
Mammalia PAX6 35
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PAX6 35
  • 90 (a)
OneToOne
chicken
(Gallus gallus)
Aves PAX-6 35
  • 99 (a)
OneToOne
PAX6 34
  • 87.54 (n)
lizard
(Anolis carolinensis)
Reptilia PAX6 35
  • 98 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pax6 34
  • 83.02 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC52531 34
zebrafish
(Danio rerio)
Actinopterygii pax6b 34 35
  • 90 (a)
pax6a 34 35
  • 81.64 (n)
fruit fly
(Drosophila melanogaster)
Insecta ey 36 35
  • 93 (a)
sv 36
  • 73 (a)
Poxn 36
  • 64 (a)
toy 36 34 35
  • 58.48 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000067 34
  • 65.76 (n)
worm
(Caenorhabditis elegans)
Secernentea K06B9.5 36
  • 69 (a)
egl-38 36
  • 68 (a)
K07C11.1 36
  • 66 (a)
vab-3 36 34 35
  • 55.87 (n)
mab-18 36
  • 44 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 41 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14207 34
Species where no ortholog for PAX6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • dog (Canis familiaris)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PAX6 Gene

ENSEMBL:
Gene Tree for PAX6 (if available)
TreeFam:
Gene Tree for PAX6 (if available)

Paralogs for PAX6 Gene

Variants for PAX6 Gene

Sequence variations from dbSNP and Humsavar for PAX6 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs121907913 Pathogenic, Peters anomaly (PETAN) [MIM:604229] 31,802,769(-) CCACC(C/G)GGCAG reference, missense, utr-variant-5-prime
rs121907918 Pathogenic, Foveal hypoplasia 1 (FVH1) [MIM:136520] 31,800,832(-) TTCTT(C/T)GCAAC reference, missense, utr-variant-5-prime
rs121907919 Pathogenic, Aniridia (AN) [MIM:106210] 31,800,837(-) CAGAG(A/T)TCTTC reference, missense, utr-variant-5-prime
rs121907925 Coloboma, ocular, autosomal dominant (COAD) [MIM:120200], Coloboma of optic nerve (COLON) [MIM:120430], Pathogenic 31,793,795(-) ATGGT(C/T)TTCTA reference, missense
rs121907926 Bilateral optic nerve hypoplasia (BONH) [MIM:165550], Pathogenic 31,790,722(-) CGGGC(A/G)CCACT reference, missense

Structural Variations from Database of Genomic Variants (DGV) for PAX6 Gene

Variant ID Type Subtype PubMed ID
esv3625830 CNV gain 21293372
nsv7728 CNV deletion 18451855
nsv825815 CNV gain 20364138
nsv825816 CNV gain 20364138

Variation tolerance for PAX6 Gene

Residual Variation Intolerance Score: 14.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.17; 3.76% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PAX6 Gene

Human Gene Mutation Database (HGMD)
PAX6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PAX6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PAX6 Gene

Disorders for PAX6 Gene

MalaCards: The human disease database

(55) MalaCards diseases for PAX6 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
coloboma of optic nerve
  • morning glory disc anomaly
peters anomaly
  • peters-plus syndrome
optic nerve hypoplasia
  • optic nerve hypoplasia, bilateral optic nerve aplasia, bilateral, included
foveal hypoplasia 1
  • foveal hypoplasia and presenile cataract syndrome
coloboma, ocular
  • coloboma, ocular, autosomal dominant
- elite association - COSMIC cancer census association via MalaCards
Search PAX6 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PAX6_HUMAN
  • Aniridia (AN) [MIM:106210]: A congenital, bilateral, panocular disorder characterized by complete absence of the iris or extreme iris hypoplasia. Aniridia is not just an isolated defect in iris development but it is associated with macular and optic nerve hypoplasia, cataract, corneal changes, nystagmus. Visual acuity is generally low but is unrelated to the degree of iris hypoplasia. Glaucoma is a secondary problem causing additional visual loss over time. {ECO:0000269 PubMed:10234503, ECO:0000269 PubMed:10737978, ECO:0000269 PubMed:11309364, ECO:0000269 PubMed:11553050, ECO:0000269 PubMed:11826019, ECO:0000269 PubMed:12552561, ECO:0000269 PubMed:12634864, ECO:0000269 PubMed:17595013, ECO:0000269 PubMed:21850189, ECO:0000269 PubMed:24033328, ECO:0000269 PubMed:8364574, ECO:0000269 PubMed:9147640, ECO:0000269 PubMed:9281415, ECO:0000269 PubMed:9792406, ECO:0000269 PubMed:9856761, ECO:0000269 PubMed:9931324, ECO:0000269 Ref.26, ECO:0000269 Ref.27}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Bilateral optic nerve hypoplasia (BONH) [MIM:165550]: A congenital anomaly in which the optic disk appears abnormally small. It may be an isolated finding or part of a spectrum of anatomic and functional abnormalities that includes partial or complete agenesis of the septum pellucidum, other midline brain defects, cerebral anomalies, pituitary dysfunction, and structural abnormalities of the pituitary. {ECO:0000269 PubMed:12721955}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Coloboma of optic nerve (COLON) [MIM:120430]: An ocular defect that is due to malclosure of the fetal intraocular fissure affecting the optic nerve head. In some affected individuals, it appears as enlargement of the physiologic cup with severely affected eyes showing huge cavities at the site of the disk. {ECO:0000269 PubMed:12721955}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Coloboma, ocular, autosomal dominant (COAD) [MIM:120200]: A set of malformations resulting from abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure). The clinical presentation is variable. Some individuals may present with minimal defects in the anterior iris leaf without other ocular defects. More complex malformations create a combination of iris, uveoretinal and/or optic nerve defects without or with microphthalmia or even anophthalmia. {ECO:0000269 PubMed:12721955}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Foveal hypoplasia 1 (FVH1) [MIM:136520]: An isolated form of foveal hypoplasia, a developmental defect of the eye defined as the lack of foveal depression with continuity of all neurosensory retinal layers in the presumed foveal area. Clinical features include absence of foveal pit on optical coherence tomography, absence of foveal hyperpigmentation, absence of foveal avascularity, absence of foveal and macular reflexes, decreased visual acuity, and nystagmus. Anterior segment anomalies and cataract are observed in some FVH1 patients. {ECO:0000269 PubMed:8640214, ECO:0000269 PubMed:9931324}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Keratitis hereditary (KERH) [MIM:148190]: An ocular disorder characterized by corneal opacification, recurrent stromal keratitis and vascularization. {ECO:0000269 PubMed:7668281}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Peters anomaly (PETAN) [MIM:604229]: Consists of a central corneal leukoma, absence of the posterior corneal stroma and Descemet membrane, and a variable degree of iris and lenticular attachments to the central aspect of the posterior cornea. {ECO:0000269 PubMed:10441571, ECO:0000269 PubMed:12721955, ECO:0000269 PubMed:8162071}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PAX6

Genetic Association Database (GAD)
PAX6
Human Genome Epidemiology (HuGE) Navigator
PAX6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PAX6
genes like me logo Genes that share disorders with PAX6: view

No data available for Genatlas for PAX6 Gene

Publications for PAX6 Gene

  1. A novel missense mutation (Leu46Val) of PAX6 found in an autistic patient. (PMID: 19607881) Maekawa M. … Yoshikawa T. (Neurosci. Lett. 2009) 3 22 46 64
  2. Molecular analysis of a human PAX6 homeobox mutant. (PMID: 16493447) D'Elia A.V. … Damante G. (Eur. J. Hum. Genet. 2006) 3 4 22 64
  3. PAX6 missense mutations associated in patients with optic nerve malformation. (PMID: 16604056) Nallathambi J. … Sundaresan P. (Mol. Vis. 2006) 3 22 46 64
  4. Missense mutations in the DNA-binding region and termination codon in PAX6. (PMID: 12552561) Chao L.-Y. … Saunders G.F. (Hum. Mutat. 2003) 3 4 22 64
  5. Screening for PAX6 gene mutations is consistent with haploinsufficiency as the main mechanism leading to various ocular defects. (PMID: 12634864) Vincent M.-C. … Calvas P. (Eur. J. Hum. Genet. 2003) 3 4 22 64

Products for PAX6 Gene

Sources for PAX6 Gene

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