HR gene

Last updated on: 13.06.2023

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DefinitionThis section has been translated automatically.

HR (HR stands for HR Lysine Demethylase And Nuclear Receptor Corepressor) is a protein coding gene located on chromosome . 8p21.3. Two transcript variants encoding different isoforms have been found for this gene.

General informationThis section has been translated automatically.

The HR gene encodes the protein of the same name, which has an important function in hair growth. The encoded HR protein, a histone demethylase, specifically demethylates both mono- and dimethylated 'Lys-9' of histone H3. This demethylase may function as a transcriptional regulator that controls hair biology (via targeting of collagens), neural activity, and the cell cycle. Translation of this protein is modulated by a regulatory open reading frame (ORF) upstream of the primary ORF. Mutations in this upstream ORF cause hereditary Marie Unna hypotrichosis, an autosomal dominant form of genetic hair loss.

Diseases associated with HR include:

LiteratureThis section has been translated automatically.

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  11. Sprecher E et al (2000) Androgenetic alopecia in heterozygous carriers of a mutation in the human hairless gene. J Am Acad Derm 42: 978-982.
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Last updated on: 13.06.2023