Recombinant Human Protein hairless (HR), Truncated

Uniprot Id

O43593

Target Species

Human

Target Name

HR

Target Full Name

Lysine-specific demethylase hairless

Target 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.

Target Involvement

Alopecia universalis congenita (ALUNC); Atrichia with papular lesions (APL); Hypotrichosis 4 (HYPT4)

Target Subcellular Location

Nucleus.

Target Tissue Specificity

Strongest expression of isoforms 1 and 2 is seen in the small intestine, weaker expression in brain and colon, and trace expression is found in liver, pancreas, spleen, thymus, stomach, salivary gland, appendix and trachea. Isoform 1 is always the most ab

Target Synonyms

ALUNC; AU; HAIR_HUMAN; Hairless protein; Host range; HR; HSA277165; Protein hairless

Target Background

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.