H4C11 Chromosome 6

H4 clustered histone 11

2 variants 2 Health Risk

Upload your DNA to see your personal genotypes for variants in H4C11.

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 small histone gene cluster on chromosome 6p22-p21.3. [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

ENSG00000197238

Associated Conditions (1)

Tessadori-van Haaften neurodevelopmental syndrome 2

Key Variants

RS2481041341

Likely pathogenic

Tessadori-van Haaften neurodevelopmental syndrome 2, Tessadori-van Haaften neurodevelopmental syndrome 2

Health Risk

RS2113887393

Pathogenic

Tessadori-van Haaften neurodevelopmental syndrome 2, Tessadori-van Haaften neurodevelopmental syndrome 2

Health Risk

All Variants (2)

RSID	Category	Clinical Significance	Conditions
RS2481041341	Health Risk	Likely pathogenic	Tessadori-van Haaften neurodevelopmental syndrome 2, Tessadori-van Haaften neurodevelopmental syndrome 2
RS2113887393	Health Risk	Pathogenic	Tessadori-van Haaften neurodevelopmental syndrome 2, Tessadori-van Haaften neurodevelopmental syndrome 2