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HDAC4 histone deacetylase 4

Also known as: HD4; AHO3; BDMR; HDACA; HA6116; HDAC-4; HDAC-A

Summary

Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene belongs to class II of the histone deacetylase/acuc/apha family. It possesses histone deacetylase activity and represses transcription when tethered to a promoter. This protein does not bind DNA directly, but through transcription factors MEF2C and MEF2D. It seems to interact in a multiprotein complex with RbAp48 and HDAC3. [provided by RefSeq, Jul 2008]

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2011-11-07)

ClinGen Genome Curation Page
Haploinsufficency

Little evidence for dosage pathogenicity (Last evaluated (2011-11-07)

ClinGen Genome Curation PagePubMed

Genomic context

Location:
2q37.3
Sequence:
Chromosome: 2; NC_000002.12 (239048168..239401647, complement)
Total number of exons:
35

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