HR gene

HR lysine demethylase and nuclear receptor corepressor

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

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.

From NCBI Gene:

  • Hypotrichosis 4
  • Atrichia with papular lesions
  • Alopecia universalis congenita

From UniProt:

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. [MIM:203655]

Atrichia with papular lesions (APL): An autosomal recessive disease characterized by papillary lesions over most of the body and almost complete absence of hair. [MIM:209500]

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. [MIM:146550]

Cytogenetic Location: 8p21.3, which is the short (p) arm of chromosome 8 at position 21.3

Molecular Location: base pairs 22,114,419 to 22,133,384 on chromosome 8 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: 8p21.3, which is the short (p) arm of chromosome 8 at position 21.3
  • AU
  • HSA277165
  • HYPT4
  • MUHH
  • MUHH1