Hairless Blocking Peptide | HR blocking peptide
Hairless Blocking Peptide
NCBI and Uniprot Product Information
NCBI Description
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 multiple regulatory ORFs that exist upstream of the primary ORF. Mutations in one of these upstream ORFs, U2HR, 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, Feb 2009]
Uniprot Description
HR: May act as a transcription factor that could act on to regulate one of the phases of hair growth. Defects in HR are the cause of alopecia universalis congenita (ALUNC). ALUNC is a rare autosomal recessive form of hair loss characterized by hair follicles without hair. Defects in HR are the cause of atrichia with papular lesions (APL); also known as congenital atrichia. APL is an autosomal recessive disease characterized by papillary lesions over most of the body and almost complete absence of hair. Defects in HR are the cause of hypotrichosis type 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. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Nuclear receptor co-regulator
Chromosomal Location of Human Ortholog: 8p21.2
Cellular Component: nuclear body; nucleus
Molecular Function: DNA binding; metal ion binding; oxidoreductase activity; transcription factor activity; transcription corepressor activity
Biological Process: regulation of transcription, DNA-dependent; transcription, DNA-dependent; negative regulation of transcription, DNA-dependent
Disease: Hypotrichosis 4; Alopecia Universalis Congenita; Atrichia With Papular Lesions