HR Antibody

Code CSB-PA002859
Size US$167
Image
  • Western Blot analysis of 293 cells using Hairless Polyclonal Antibody
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Product Details

Uniprot No. O43593
Target Names HR
Alternative Names ALUNC antibody; AU antibody; HAIR_HUMAN antibody; Hairless protein antibody; Host range antibody; HR antibody; HSA277165 antibody; Protein hairless antibody
Raised in Rabbit
Species Reactivity Human
Immunogen Synthesized peptide derived from the N-terminal region of Human Hairless.
Immunogen Species Homo sapiens (Human)
Conjugate Non-conjugated
Isotype IgG
Purification Method The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
Concentration It differs from different batches. Please contact us to confirm it.
Buffer Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Form Liquid
Tested Applications WB, IHC, IF, ELISA
Recommended Dilution
Application Recommended Dilution
WB 1:500-1:2000
IHC 1:100-1:300
IF 1:200-1:1000
ELISA 1:10000
Protocols Western Blotting(WB) Protocol
Immunohistochemistry (IHC) Protocol
Immunofluorescence (IF) Protocol
ELISA Protocol
Troubleshooting and FAQs Antibody FAQs
Storage Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
Lead Time Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.

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Target Data

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.
Gene References into Functions
  1. summary of the current knowledge of hairless protein (HR) bioactions, how HR mutations may be contributing to alopecia as well as to cancer PMID: 28543886
  2. mammalian Hr is a phosphoprotein which can exert cross-talk with the p53 pathway with important implications for the regulation of cell proliferation and differentiation in tissues such as skin and brain where Hr is highly expressed. PMID: 27355563
  3. Mutations identified extend the spectrum of mutations in the HR gene resulting in Atrichia with papular lesions. PMID: 26680117
  4. We have identified two recurrent missense mutations in U2HR c.1A>T (p. Met1?) and c.104A>G (p.*35Wext1263*) in two Chinese Han families with Marie Unna Hereditary Hypotrichosis. PMID: 26269244
  5. we report the first Korean case of Marie Unna hereditary hypotrichosis with a novel heterozygous missense mutation (c.80C>T) in U2HR that has not been documented to date. PMID: 24961381
  6. mutation responsible for atrichia with papular lesions in a Pakistani family PMID: 24111842
  7. study reports two cases of Marie Unna hereditary hypotrichosis; a novel nonsense mutation of U2HR was identified in the second case, but no causative mutation in U2HR or EPS8L3 was found in the first case PMID: 24236410
  8. we have identified a mutation, c.74C>T, in a Chinese family with MUHH, which has been previously described in a family from Hungary. Our findings therefore indicate the prevalence of this mutation in diverse populations. PMID: 24261346
  9. Findings indicate that hairless (HR) is a H3K9 demethylase that regulates epidermal homeostasis via direct control of its target genes. PMID: 24334705
  10. Unliganded VDR upregulates the expression of hairless, the gene product of which acts as a downstream comodulator to feedback-repress DKKL1 and SOSTDC1. PMID: 24190897
  11. novel heterozygous mutation in the first Japanese case of Marie Unna hereditary hypotrichosis PMID: 23293922
  12. data demonstrates an acceleration of HR sequence evolution in human branch and suggests that the ability of HR protein to mediate postnatal hair-cycling has been altered in the course of human evolution. PMID: 22355551
  13. We have identified a novel heterozygous missense mutation in a Chinese patient with Marie Unna hereditary hypotrichosis. PMID: 22155146
  14. deletion mutants of hairless indicate that the JmjC domain contributes to the co-repressor activity PMID: 21982945
  15. DNA sequence analysis of the HR gene revealed three novel mutations including two nonsense (p.Cys690X, p.Arg819X) and a missense (p.Pro1157Arg) in four families with congenital atrichia with papular lesions. PMID: 21919222
  16. The index patient displayed the typical pattern of hair loss and was found to carry the disease-causing c.3G>A (p.M1I) U2HR mutation PMID: 20659777
  17. Mutations in the gene HR coding for the hairless protein are associated with an autosomal recessive form of alopecia universalis PMID: 21272494
  18. Marie Unna hereditary hypotrichosis is caused by a novel mutation (U2HR) in the human hairless transcript. PMID: 20163456
  19. study reports a family with Marie Unna hereditary hypotrichosis (MUHH) from Turkey; identified the mutation c.2T > C (M1T) in all affected family members; concluded that there may be considerable clinical variations in MUHH PMID: 20814945
  20. the first time that a mutation in U2HR has been identified in families from the Middle East PMID: 20055871
  21. Hr and VDR interact via multiple protein-protein interfaces, catalyzing histone demethylation to effect chromatin remodeling and repress the transcription of VDR target genes that control the hair cycle. PMID: 20512927
  22. study reports an Iranian family with atrichia with papular lesions due to 3-bp deletion (c.1839-1841delATG) mutations in the HR gene PMID: 19747330
  23. A mutation in the 5'-UTR of HR as identified in patients with Marie Unna hereditary hypotrichosis. PMID: 19897589
  24. Mutation of the Hr gene results in congenital hair loss in both mice and men PMID: 20087431
  25. Mutations in the human hairless gene have been reported in families with recessive universal congenital alopecia. PMID: 11966690
  26. first demonstration of compound heterozygous mutations underlying atrichia with papular lesions (APL). PMID: 12271294
  27. Hairless protein functions as a corepressor of vitamin D receptor to block calcitriol action on keratinocytes. PMID: 16269453
  28. In the present report of two families with congenital atrichia, the second exonic insertion mutation in the human HR gene and the first mutation in exon 12 are described. PMID: 17372750
  29. all of the pathogenic HR mutants bound VDR but exhibited reduced binding to histone deacetylase 1 (HDAC1), suggesting that the impaired corepressor activity is due in part to defective interactions with HDACs PMID: 17609203
  30. Three novel nonsense mutations in the hairless (HR) gene in atrichia with papular lesions are reported. PMID: 17869066
  31. two novel heterozygous mutations in exons 3 and 8 of the hairless gene PMID: 17958788
  32. Two mutations identified in this study are novel mutations in the HR gene and extend the body of evidence implicating the hairless gene family in the pathogenesis of human skin disorders. PMID: 18164595
  33. Mutations in the human hairless gene on chromosome 8p12 have been implicated in atrichia with papular lesions. Here, we report two novel heterozygous mutations in an Australian family and a novel homozygous mutation in 2 Arab siblings. PMID: 18709303
  34. A pathogenic initiation codon mutation in U2HR, an inhibitory upstream ORF in the 5' UTR of the gene encoding the human hairless homolog (HR). PMID: 19122663
  35. Case Report: A novel U2HR non-synonymous mutation in a Chinese patient with Marie Unna Hereditary Hypotrichosis. PMID: 19540091
  36. The full-length HR repressed VDR-mediated transactivation, but HRDelta1072-1126 failed to suppress VDR-mediated transactivation. PMID: 19819974

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Involvement in disease Alopecia universalis congenita (ALUNC); Atrichia with papular lesions (APL); Hypotrichosis 4 (HYPT4)
Subcellular Location Nucleus
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
Database Links

HGNC: 5172

OMIM: 146550

KEGG: hsa:55806

STRING: 9606.ENSP00000370826

UniGene: Hs.272367

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