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. [provided by RefSeq, Oct 2014]

Description

HR lysine demethylase and nuclear receptor corepressor

Tissue specificity

Tissue enhanced (esophagus, skin)

Subcell location

Nucleoplasm

Predicted location

Intracellular

Protein family

Disease related genes
Enzymes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Potential drug targets
Predicted intracellular proteins
Protein evidence (Kim et al 2014)

Chromosome

8 (22114419 - 22133384)

Ensembl ID

ENSG00000168453  (ver. 103.38)

Orthologs

Mouse Hr: ENSMUSG00000022096

UniProt

O43593

neXtProt

NX_O43593

Human splice variants
Mouse splice variants

Protein structure