Homo sapiens paired box 6 (PAX6), RefSeqGene (LRG_720) on chromosome 1 - Nucleotide

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The chromatin remodeler ADNP regulates neurodevelopmental disorder risk genes and neocortical neurogenesis. [Proc Natl Acad Sci U S A. 2025]
The chromatin remodeler ADNP regulates neurodevelopmental disorder risk genes and neocortical neurogenesis.
Clémot-Dupont S, Lourenço Fernandes JA, Larrigan S, Sun X, Medisetti S, Stanley R, El Hankouri Z, Joshi SV, Picketts DJ, Shekhar K, et al. Proc Natl Acad Sci U S A. 2025 Jan 21; 122(3):e2405981122. Epub 2025 Jan 14.
Mitotic block and epigenetic repression underlie neurodevelopmental defects and neurobehavioral deficits in congenital heart disease. [Nat Commun. 2025]
Mitotic block and epigenetic repression underlie neurodevelopmental defects and neurobehavioral deficits in congenital heart disease.
Gabriel GC, Yagi H, Tan T, Bais A, Glennon BJ, Stapleton MC, Huang L, Reynolds WT, Shaffer MG, Ganapathiraju M, et al. Nat Commun. 2025 Jan 7; 16(1):469. Epub 2025 Jan 7.
Lipidomic profiling of mouse brain and human neuron cultures reveals a role for Mboat7 in mTOR-dependent neuronal migration. [Sci Transl Med. 2025]
Lipidomic profiling of mouse brain and human neuron cultures reveals a role for Mboat7 in mTOR-dependent neuronal migration.
Tang I, Nisal A, Reed A, Ware TB, Johansen A, Zaki MS, Cravatt BF, Gleeson JG. Sci Transl Med. 2025 Jan; 17(779):eadp5247. Epub 2025 Jan 1.

RefSeq alternative splicing
See 51 reference mRNA sequence splice variants for the PAX6 gene.

Protein
Protein sequence from Nucleotide coding region
PubMed
PubMed articles cited by Nucleotide sequence record
Taxonomy
Taxonomy sequences associated with Nucleotide record
Components (Core)
Links to Core components
Full text in PMC
Free full text articles in PMC
Gene
Link to related Genes
OMIM
OMIM records associated with Nucleotide sequence
PubMed (Weighted)
Links to pubmed
RNA
RNA sequence records that are annotated on the current genomic nucleotide sequences. The RNA records represent aligned or predicted transcripts of the current records.
SNP
Related SNPs

RecName: Full=Paired box protein Pax-6; AltName: Full=Aniridia type II protein; ...
RecName: Full=Paired box protein Pax-6; AltName: Full=Aniridia type II protein; AltName: Full=Oculorhombin
gi|6174889|sp|P26367.2|PAX6_HUMAN

Protein
Human DNA sequence from clone A1280 on chromosome 11, complete sequence
Human DNA sequence from clone A1280 on chromosome 11, complete sequence
gi|1730464|emb|Z83307.1|

Nucleotide
Isolated optic nerve hypoplasia
Isolated optic nerve hypoplasia

MedGen
C1833797[conceptid] (1)
MedGen
Irido-corneo-trabecular dysgenesis
Irido-corneo-trabecular dysgenesis

MedGen

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Nucleotide