HIST2H2AA3

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hist2h2aa3: A Gene Linked to Rare Genetic Conditions and Cancer

Description

hist2h2aa3 is a gene that encodes a protein called histone H2A.2. Histones are essential proteins that package DNA into tightly structured units called nucleosomes. These structures help maintain the integrity of the genome and regulate gene expression.

Associated Diseases

Mutations in the hist2h2aa3 gene can cause a rare genetic disorder known as microcephaly with cutis laxa (MCL). MCL is characterized by a small head size and loose, wrinkled skin. Affected individuals may also have intellectual disability, seizures, and other neurological problems.

Did you Know ?

Mutations in the hist2h2aa3 gene are estimated to occur in approximately 1 in 100,000 individuals.