ELP4 gene

elongator acetyltransferase complex subunit 4

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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. [provided by RefSeq, Dec 2013]

From UniProt:

Component of the RNA polymerase II elongator complex, a multiprotein complex associated with the RNA polymerase II (Pol II) holoenzyme, and which is involved in transcriptional elongation (PubMed:11714725, PubMed:11818576, PubMed:16713582). The elongator complex catalyzes formation of carboxymethyluridine in the wobble base at position 34 in tRNAs (PubMed:29332244).

From NCBI Gene:

  • Aniridia 2

From UniProt:

Aniridia 2 (AN2): A form of aniridia, 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. [MIM:617141]

Cytogenetic Location: 11p13, which is the short (p) arm of chromosome 11 at position 13

Molecular Location: base pairs 31,509,767 to 31,790,324 on chromosome 11 (Homo sapiens Updated Annotation Release 109.20191205, GRCh38.p13) (NCBI)

Cytogenetic Location: 11p13, which is the short (p) arm of chromosome 11 at position 13
  • AN
  • AN2
  • C11orf19
  • dJ68P15A.1
  • hELP4
  • PAX6NEB
  • PAXNEB