Gene: ELP4

Alternate names for this Gene: AN|AN2|C11orf19|PAX6NEB|PAXNEB|dJ68P15A.1|hELP4

Gene Summary: This gene encodes a component of the six subunit elongator complex, a histone acetyltransferase complex that associates directly with RNA polymerase II during transcriptional elongation. The human gene can partially complement sensitivity phenotypes of yeast ELP4 deletion mutants. This gene has also been associated with Rolandic epilepsy. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 11

Location in Chromosome : 11p13

Description of this Gene: elongator acetyltransferase complex subunit 4

Type of Gene: protein-coding

Gene: PAX6

Alternate names for this Gene: AN|AN1|AN2|ASGD5|D11S812E|FVH1|MGDA|WAGR

Gene Summary: This gene encodes paired box protein Pax-6, one of many human homologs of the Drosophila melanogaster gene prd. In addition to a conserved paired box domain, a hallmark feature of this gene family, the encoded protein also contains a homeobox domain. Both domains are known to bind DNA and function as regulators of gene 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 results in multiple transcript variants encoding different isoforms. Interestingly, inclusion of a particular alternate coding exon has been shown to increase the length of the paired box domain and alter its DNA binding specificity. Consequently, isoforms that carry the shorter paired box domain regulate a different set of genes compared to the isoforms carrying the longer paired box domain.

Gene is located in Chromosome: 11

Location in Chromosome : 11p13

Description of this Gene: paired box 6

Type of Gene: protein-coding

rs121907922 in ELP4;PAX6 gene and ANTERIOR SEGMENT DYSGENESIS 5 PMID 12552561 2003 Missense mutations in the DNA-binding region and termination codon in PAX6.

PMID 27431685 2016 Identification of a novel frameshift heterozygous deletion in exon 8 of the PAX6 gene in a pedigree with aniridia.

PMID 28321846 2017 Molecular analysis of patients with aniridia in Russian Federation broadens the spectrum of PAX6 mutations.

PMID 11309364 2001 Missense mutation at the C-terminus of PAX6 negatively modulates homeodomain function.

PMID 29618921 2018 PAX6 molecular analysis and genotype-phenotype correlations in families with aniridia from Australasia and Southeast Asia.

rs121907922 in ELP4;PAX6 gene and Aniridia type 1 PMID 28321846 2017 Molecular analysis of patients with aniridia in Russian Federation broadens the spectrum of PAX6 mutations.

PMID 27431685 2016 Identification of a novel frameshift heterozygous deletion in exon 8 of the PAX6 gene in a pedigree with aniridia.

PMID 29618921 2018 PAX6 molecular analysis and genotype-phenotype correlations in families with aniridia from Australasia and Southeast Asia.

PMID 12552561 2003 Missense mutations in the DNA-binding region and termination codon in PAX6.

PMID 11309364 2001 Missense mutation at the C-terminus of PAX6 negatively modulates homeodomain function.

rs864309681 in ELP4;PAX6 gene and Congenital cataract PMID 26694549 2016 Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing.