H3-3A

Chr 1AD

H3.3 histone A

Also known as: BRYLIB1, H3.3A, H3F3, H3F3A

Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene contains introns and its mRNA is polyadenylated, unlike most histone genes. The protein encoded is a replication-independent member of the histone H3 family. [provided by RefSeq, Jul 2008]

GeneReviewsOMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Bryant-Li-Bhoj neurodevelopmental syndrome 1MIM #619720
AD
UniProtGlioma

Clinical highlights

Gene-disease validity (ClinGen)
Bryant-Li-Bhoj neurodevelopmental syndrome 1 · ADDefinitivesufficient evidence for diagnostic panels
0
Active trials
22
Pubs (1 yr)
P/LP submissions
P/LP missense
LOEUF
Mechanism
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GeneReview available — H3-3A
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

gnomad: TimeoutError: The operation was aborted due to timeout

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

H3-3A · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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