H1-0

Chr 22

H1.0 linker histone

Also known as: H1.0, H10, H1F0, H1FV

NCBI Gene: 3005 ENSG00000189060 UniProt: P07305 OMIM: 142708

The H1-0 protein binds to linker DNA between nucleosomes to form higher-order chromatin structures and is particularly expressed in terminally differentiated cells with low division rates. Mutations in H1-0 cause neurodevelopmental disorder with spastic diplegia and visual defects, which follows an autosomal dominant inheritance pattern. This condition typically presents in early childhood with developmental delays affecting motor and visual systems.

OMIM ResearchSummary from RefSeq, UniProt

Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a replication-independent histone that is a member of the histone H1 family. [provided by RefSeq, Oct 2015]

OMIM ResearchGenerating clinical summary…

LOFmechanismLOEUF 0.90

Clinical Summary— H1-0

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Population Constraint (gnomAD)

Moderately constrained gene (pLI 0.64) — some intolerance to loss-of-function variants.

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ClinVar Variants

24 VUS of 27 total submissions

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Clinical Trials

12 active or recruiting trials — potential therapeutic options may be available

Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Moderate LoF intolerance

LoF Constraint?

0.90LOEUF

pLI 0.643

Z-score 1.69

OE 0.00 (0.00–0.90)

Moderately constrained

Typical tolerance to LoF variation

Missense Constraint?

0.88Z-score

OE missense 0.77 (0.65–0.92)

88 obs / 114.4 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.00 (0.00–0.90)

0≤0.351.4

Missense OE?0.77 (0.65–0.92)

0≤0.61.4

Synonymous OE?1.23

0≤1.21.6

LoF obs/exp: 0 / 3.3Missense obs/exp: 88 / 114.4Syn Z: -1.32

This gene — mechanism propensity

0.4289th %ile

GOF

0.12100th %ile

LOF

0.69top 10%

The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).

LOFprediction above median

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

27 submitted variants in ClinVar

ClinVar

Classification Summary

VUS24

Likely Benign3

VUS

Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Synonymous	Total
Pathogenic	0	0	0
Likely Pathogenic	0	0	0
VUS	24	0	24
Likely Benign	2	1	3
Benign	0	0	0
Total	26	1	27

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

24 pathogenic / likely-pathogenic (of 26) ClinVar copy-number / structural variants overlap H1-0 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →

Protein Context — Lollipop Plot

H1-0 · protein map & ClinVar variants

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

External Resources

Links to major genomics databases and tools

Franklin by Genoox

AI-powered variant curation and clinical analysis

DECIPHER

Genomic variants and phenotypes in rare disease patients

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

CaregiversEmotionsEmotion Regulation

Smartphone-based Cognitive Emotion Regulation Training for Unpaid Primary Caregivers of Persons With Alzheimer's Disease

RECRUITING

NCT05949047Phase NABryan DennyStarted 2023-09-14

Cognitive Emotion Regulation Training via Psychological DistancingCognitive Emotion Regulation Training via Reinterpretation

Physical Inactivity

Effects of a 12-Week Recreational Football Program on Physical Activity Determinants in Adolescents

NOT YET RECRUITING

NCT07490249Phase NAHospital Universitario Pedro ErnestoStarted 2026-03

Recreational Football Program

Neuromotor Impairments

Physical Therapy for Montana Children With NMD Using Hippotherapy and the Equine Environment

RECRUITING

NCT06887647Phase NAUniversity of MontanaStarted 2025-08-20

Physical Therapy Using Hippotherapy and the Equine EnvironmentStandard Play-Based Physical Therapy

Ketosis, MetabolicImmune FunctionsHistone Deacetylase (HDAC) Activity

The Effect of Acute Exogenous Oral Ketone Supplementation on Immune Cells Function and Immune Cells Histone Β-hydroxybutyrylation

RECRUITING

NCT06590623Phase NAUniversity of British ColumbiaStarted 2024-10-01

Ketone Monoester (KE)

Concussion (Diagnosis)Sport-related ConcussionHockey Player

Longitudinal Monitoring of Head Impacts in Elite Junior Ice Hockey

ACTIVE NOT RECRUITING

NCT07341880University Hospital, CaenStarted 2025-09-03

Head impact monitoringHeart rate variability monitoringDual-task cognitive and motor assessment

Chronic Heart FailureAging

Comparing the Effects of Combining Cognitive and Physical Exercise Training on Cognition, and Cerebral Blood Flow Regulation in Men and Women With Chronic Heart Failure

RECRUITING

NCT04970888Phase NAMontreal Heart InstituteStarted 2021-09-01

Cognitive trainingExercise trainingUsual care

HypertrophyExercise TrainingSkeletal Muscle Atrophy

Resistance Training, Detraining, and Retraining Study 2024 (TraDeRe2024)

RECRUITING

NCT06573086Phase NAUniversity of JyvaskylaStarted 2024-08-19

Resistance Training

Anterior Shoulder Dislocation

Apprehension-based Training Compared With Standard Physical Therapy for Military Personnel Following Anterior Shoulder Dislocation - a Randomized Clinical Trial

RECRUITING

NCT06752551Phase NAAlon RabinStarted 2025-02-05

Apprehension-based trainingStandard physical therapy

Aging

Aquatic Exercises Combined With Cognitive Tasks for Older Adults

RECRUITING

NCT07156708Phase NAFederal University of PelotasStarted 2025-09-05

Aquatic aerobic exercise programCognitive tasks

Functional Voice DisorderPsychogenic Voice DisorderMuscle Tension Dysphonia

Autonomic Dysfunction in Functional Dysphonia

RECRUITING

NCT06100601Phase NAUniversity GhentStarted 2023-10-10

ANS regulation therapyconventional voice therapy (CVT)ANS regulation therapy + CVT

Multiple Sclerosis (MS) - Relapsing-remitting

Educational Programs Based on Healthy Habits to Improve Quality of Life and Psychosocial Profile in Women With Neurodegenerative Diseases: The ADVICE Protocol Study (Phase 1)

ACTIVE NOT RECRUITING

NCT06925022Phase NAUniversidad de AlmeriaStarted 2024-12-15

Strength training session during Early Follicular PhaseStrength Training Protocol during Late Follicular PhaseStrength Training during Mid-Luteal Phase

Premenstrual SymptomsEffect of Acupressure Mat

Acupressure Mat on Perceived Stress, Sleep Quality and Premenstrual Symptoms

NOT YET RECRUITING

NCT06644365Phase NAGulhane School of MedicineStarted 2024-11-15

Acupresure matBasic mat

Clinical Literature

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