HR Full-Length MS Protein Standard


Product Description:

Name HR Full-Length MS Protein Standard
Cat# CPFL309010
Protein Namehair growth associated
SymbolHR
SynonymsALUNC; AU; HSA277165; HYPT4; MUHH; MUHH1
AccessionNM_005144
Cytogenetic8p21.2
Amino Acid Labeled[U- 13C6, 15N4]-L-Arg and [U- 13C6, 15N2]-L-Lys
Chemical Purity> 80% as determined by SDS-PAGE and Coomassie blue staining
Expression HostHuman HEK293 cells
Predicted MW127.3 kDa
Expression TrueORF CloneRC209010
DescriptionHR Full-Length MS Protein Standard (NP_005135), Labeled with [U- 13C6, 15N4]-L-Arginine and [U- 13C6, 15N2]-L-Lysine, was produced in human 293 cells (HEK293) with fully chemically defined cell culture medium to obtain incorporation efficiency at Creative-Proteomics. 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.

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