HR

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.

Full Name

HR, Lysine Demethylase And Nuclear Receptor Corepressor

Function

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.

Biological Process

Histone H3-K9 demethylation Source: GO_Central
Regulation of transcription by RNA polymerase II Source: GO_Central

Cellular Location

Nucleus

Involvement in disease

Alopecia universalis congenita (ALUNC):
A rare disorder characterized by loss of hair from the entire body. No hair are present in hair follicles on skin biopsy.
Atrichia with papular lesions (APL):
An autosomal recessive disease characterized by papillary lesions over most of the body and almost complete absence of hair.
Hypotrichosis 4 (HYPT4):
An autosomal dominant condition characterized by reduced amount of hair, alopecia, little or no eyebrows, eyelashes or body hair, and coarse, wiry, twisted hair in early childhood.