H4C5

Chr 6AD

H4 clustered histone 5

Also known as: H4/j, H4FJ, HIST1H4E, TEBIVANED3, TEVANED3

This gene encodes histone H4, a core component of nucleosomes that wraps and compacts DNA into chromatin and regulates DNA accessibility through post-translational modifications. Mutations cause Tessadori-Bicknell-van Haaften neurodevelopmental syndrome 3, which follows autosomal dominant inheritance. This represents a chromatin remodeling disorder affecting transcription regulation and chromosomal stability during development.

OMIMResearchSummary from RefSeq, OMIM, UniProt
AD1 OMIM phenotype
Clinical SummaryH4C5
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Gene-Disease Validity (ClinGen)
Tessadori-Van Haaften neurodevelopmental syndrome 3 · ADStrong

Strong evidence — appropriate for clinical testing

Some data sources returned errors (1)

gnomad: Error: Gene not found

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

H4C5 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC