Gene: HR

Alternate names for this Gene: ALUNC|AU|HSA277165|HYPT4|MUHH|MUHH1

Gene Summary: 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.

Gene is located in Chromosome: 8

Location in Chromosome : 8p21.3

Description of this Gene: HR lysine demethylase and nuclear receptor corepressor

Type of Gene: protein-coding

rs121434448 in HR gene and Alopecia universalis congenita PMID 9445480 1998 Alopecia universalis associated with a mutation in the human hairless gene.

PMID 12406339 2002 A novel missense mutation affecting the human hairless thyroid receptor interacting domain 2 causes congenital atrichia.

PMID 9736769 1998 Cloning, genomic organization, alternative transcripts and mutational analysis of the gene responsible for autosomal recessive universal congenital alopecia.

PMID 24334705 2014 Hairless is a histone H3K9 demethylase.

rs4335126 in HR gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.