HIRA

Protein HIRA is a is_associated_with::protein that in humans is encoded by the HIRA is_associated_with::gene. This gene is mapped to 22q11.21, centromeric to COMT.

Function
The specific function of this protein has yet to be determined; however, it has been speculated to play a role in is_associated_with::transcriptional regulation and/or is_associated_with::chromatin and is_associated_with::histone metabolism.

Research done by Salomé Adam, Sophie E. Polo, and Geneviève Almouzni indicate that HIRA proteins are involved in restarting transcription after UVC damage

Clinical significance
It is considered the primary candidate gene in some is_associated_with::haploinsufficiency syndromes such as is_associated_with::DiGeorge syndrome, and insufficient production of the gene may disrupt normal embryonic development.

Model organisms
is_associated_with::Model organisms have been used in the study of HIRA function. A conditional is_associated_with::knockout mouse line, called Hiratm1a(EUCOMM)Wtsi was generated as part of the is_associated_with::International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists.

Male and female animals underwent a standardized is_associated_with::phenotypic screen to determine the effects of deletion. Twenty two tests were carried out on is_associated_with::mutant mice and two significant abnormalities were observed. No is_associated_with::homozygous is_associated_with::mutant mice survived until is_associated_with::weaning. The remaining tests were carried out on is_associated_with::heterozygous mutant adult mice and a decreased is_associated_with::leukocyte cell number was recorded in male animals.

Interactions
HIRA has been shown to interact with is_associated_with::HIST1H2BK.