HIST1H2AL
Description
HIST1H2AL, also known as histone H2A.L, is a protein-coding gene that plays a crucial role in the structure and function of chromatin, the complex of DNA and proteins that forms chromosomes. It is one of several genes that encode histone H2A, which is a core component of the nucleosome, the basic repeating unit of chromatin.
Associated Diseases
Mutations in the HIST1H2AL gene have been linked to several human diseases, including:
- Kabuki syndrome: A rare genetic disorder characterized by distinctive facial features, intellectual disability, and growth problems.
- Weaver syndrome: A rare genetic disorder characterized by accelerated growth, distinctive facial features, and intellectual disability.
- Microcephaly: A condition characterized by an unusually small head and brain.
- Autism spectrum disorder: A complex neurodevelopmental disorder characterized by social, communication, and behavioral challenges.
Did you Know ?
Approximately 1 in 20,000 individuals is affected by Kabuki syndrome, which is caused by mutations in the HIST1H2AL gene.
