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HR (gene)

Protein-coding gene in the species Homo sapiens

Summary

Protein-coding gene in the species Homo sapiens

HR is a gene encoding Protein hairless.

This gene encodes a protein whose function has been linked to hair growth. A similar protein in rat functions as a transcriptional corepressor for thyroid hormone and interacts with histone deacetylases.

Human Genetics

Variations in this gene are involved in low levels of hair (baldness / alopecia / hypotrichosis) Mutations in this gene in humans have been documented in cases of autosomal recessive congenital alopecia and atrichia with papular lesions.

The protein contains a Zinc finger domain.

References

References

  1. (Apr 1999). "Genomic organization of the human hairless gene (HR) and identification of a mutation underlying congenital atrichia in an Arab Palestinian family". Genomics.
  2. (Apr 1998). "A gene for universal congenital alopecia maps to chromosome 8p21-22". Am J Hum Genet.
  3. "Entrez Gene: HR hairless homolog (mouse)".
  4. (March 2016). "Identification of mutations in U2HR in two Chinese families with Marie Unna hereditary hypotrichosis". Clinical and Experimental Dermatology.
  5. Ahmad W. (1998). "Alopecia universalis associated with a mutation in the human hairless gene". Science.
  6. Ahmad W. (1998). "A missense mutation in the zinc-finger domain of the human hairless gene underlies congenital atrichia in a family of Irish travellers". Am. J. Hum. Genet..
  7. Sprecher E. (1999). "Identification of a genetic defect in the hairless gene in atrichia with papular lesions: evidence for phenotypic heterogeneity among inherited atrichias". Am. J. Hum. Genet..
  8. Ahmad W. (1999). "A homozygous nonsense mutation in the zinc-finger domain of the human hairless gene underlies congenital atrichia". J. Invest. Dermatol..
  9. Hillmer AM. (2001). "Variant 1859G→A (Arg620Gln) of the "Hairless" Gene: Absence of Association with Papular Atrichia or Androgenetic Alopecia". Am. J. Hum. Genet..
  10. Potter GB. (2001). "The hairless gene mutated in congenital hair loss disorders encodes a novel nuclear receptor corepressor". Genes Dev..
Wikipedia Source

This article was imported from Wikipedia and is available under the Creative Commons Attribution-ShareAlike 4.0 License. Content has been adapted to SurfDoc format. Original contributors can be found on the article history page.

transcription-coregulators
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