GeneID: 443


Common Name: ASH1L Type: Gene
Chromosome: 1 (NC_000001.11) Locus: NM_018489.3 (ASH1L)
HUGO Symbol: ASH1L Full Name: ASH1 like histone lysine methyltransferase
Exons: 28 Introns: 27

The ASH1L gene encodes a histone methyltransferase involved in the epigenetic modification of chromatin. It catalyzes H3K36 methylation and plays important roles in development. It is a member of the trithorax (Trx) family of transcriptional activators. It was described in a family of English descent with β-thalassaemia trait phenotype that was not linked to the HBB gene locus. ASH1L was associated with the active HBB promoter in differentiating human erythroid precursor cells, while its shRNA-mediated suppression associated with a decrease in globin gene expression. ASH1L plays a role in the regulation of β-globin gene expression and could be a potential modifier of β-thalassaemia severity.

Synonyms: ASH1 , KMT2H , MRD52 , ASH1L1


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Publications / Origin

  1. Breton A, Theodorou A, Aktuna S, Sonzogni L, Darling D, Chan L, Menzel S, van der Spek PJ, Swagemakers SM, Grosveld F, Philipsen S, Thein SL, ASH1L (a histone methyltransferase protein) is a novel candidate globin gene regulator revealed by genetic study of an English family with beta-thalassaemia unlinked to the beta-globin locus., Br J Haematol, 175(3), 525-530, 2016 PubMed
Created on 2021-08-18 13:54:23, Last reviewed on (Show full history)

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