HIRA Chromosome 22
Histone cell cycle regulator
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What This Gene Does
This gene encodes a histone chaperone that preferentially places the variant histone H3.3 in nucleosomes. Orthologs of this gene in yeast, flies, and plants are necessary for the formation of transcriptionally silent heterochomatin. This gene plays an important role in the formation of the senescence-associated heterochromatin foci. These foci likely mediate the irreversible cell cycle changes that occur in senescent cells. It is considered the primary candidate gene in some haploinsufficiency syndromes such as DiGeorge syndrome, and insufficient production of the gene may disrupt normal embryonic development. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"WD repeat domain containing|HIRA histone chaperone complex subunits"
Locus Type
gene with protein product
Location
22q11.21
Ensembl
ENSG00000100084
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS150603624 | Health Risk | Conflicting classifications of pathogenicity | — |