Histone Deacetylase 8

Alternative Names

HDAC8

Length

243,588 bases

No. of Exons

No. of isoforms

Protein Name

Histone deacetylase 8

Molecular Mass

41758 Da

Amino Acid Count

377

Genomic Location

chrX:72,329,516-72,573,103

Gene Map Locus

Xq13.1

Description

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 I of the histone deacetylase family. It catalyzes the deacetylation of lysine residues in the histone N-terminal tails and represses transcription in large multiprotein complexes with transcriptional co-repressors. Multiple transcript variants encoding different isoforms have been found for this gene. [From RefSeq]

Epidemiology in the Arab World

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Lebanon

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_018486.3:c.562G>A	Lebanon	NC_000023.11:g.72490995C>T	Likely Pathogenic, Pathogenic	Pathogenic	Cornelia de Lange Syndrome 5	NG_015851.1:g.87109G>A; NM_018486.3:c.562G>A ; NP_001159890.1:p.Ala97Thr	1603069440	691251
NM_018486.3:c.958G>A	Lebanon	chrX:72462051	Likely Pathogenic, Pathogenic	Pathogenic	Cornelia de Lange Syndrome 5	NG_015851.1:g.116053G>A; NM_018486.3:c.958G>A; NP_060956.1:p.Gly320Arg	398122909	39713

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External Links

https://ghr.nlm.nih.gov/gene/HDAC8 https://www.genecards.org/cgi-bin/carddisp.pl?gene=HDAC8 https://www.ncbi.nlm.nih.gov/gene?term=55869

Contributors

Pratibha Nair: 23.04.2020

Edit History

Pratibha Nair: 23.04.2020

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