Aliases for HR Gene
External Ids for HR Gene
Previous HGNC Symbols for HR Gene
Previous GeneCards Identifiers for HR Gene
This gene encodes a protein that is involved in hair growth. This protein functions as a transcriptional corepressor of multiple nuclear receptors, including thyroid hormone receptor, the retinoic acid receptor-related orphan receptors and the vitamin D receptors, and it interacts with histone deacetylases. The translation of this protein is modulated by a regulatory open reading frame (ORF) that exists upstream of the primary ORF. Mutations in this upstream ORF cause Marie Unna hereditary hypotrichosis (MUHH), an autosomal dominant form of genetic hair loss. Mutations in this gene also cause autosomal recessive congenital alopecia and atrichia with papular lesions, other diseases resulting in hair loss. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2014]
GeneCards Summary for HR Gene
HR (HR, Lysine Demethylase And Nuclear Receptor Corepressor) is a Protein Coding gene. Diseases associated with HR include Alopecia Universalis Congenita and Atrichia With Papular Lesions. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and transcription corepressor activity. An important paralog of this gene is JMJD1C.
UniProtKB/Swiss-Prot for HR Gene
Histone demethylase that specifically demethylates both mono- and dimethylated Lys-9 of histone H3. May act as a transcription regulator controlling hair biology (via targeting of collagens), neural activity, and cell cycle.