H4C9 Chromosome 6
H4 clustered histone 9
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What This Gene Does
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 is intronless and encodes a replication-dependent histone that is a member of the histone H4 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the histone microcluster on chromosome 6p21.33. [provided by RefSeq, Aug 2015]
Gene Info
Gene Group
"H4 histones|Proteins encoded by multiple genes"
Locus Type
gene with protein product
Location
6p22.1
Ensembl
ENSG00000276180
Associated Conditions (1)
Tessadori-Van Haaften neurodevelopmental syndrome 4
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2480849698 | Health Risk | Pathogenic | Tessadori-Van Haaften neurodevelopmental syndrome 4, Tessadori-Van Haaften neurodevelopmental syndrome 4 |
| RS2480849970 | Health Risk | Pathogenic | Tessadori-Van Haaften neurodevelopmental syndrome 4, Tessadori-Van Haaften neurodevelopmental syndrome 4 |