Size:100ug. Other sizes are also available. For further information, please contact us.
Research Areas:Metabolism
Uniprot ID:Q30201
Gene Names:HFE
Organism:Homo sapiens (Human)
AA Sequence:RLLRSHSLHYLFMGASEQDLGLSLFEALGYVDDQLFVFYDHESRRVEPRTPWVSSRISSQMWLQLSQSLKGWDHMFTVDFWTIMENHNHSKESHTLQVILGCEMQEDNSTEGYWKYGYDGQDHLEFCPDTLDWRAAEPRAWPTKLEWERHKIRARQNRAYLERDCPAQLQQLLELGRGVLDQQVPPLVKVTHHVTSSVTTLRCRALNYYPQNITMKWLKDKQPMDAKEFEPKDVLPNGDGTYQGWITLAVPPGEEQRYTCQVEHPGLDQPLIVIWEPSPSGTLV
Expression Region:23-306aa
Sequence Info:Extracellular Domain
Source:E.coli
Tag Info:N-terminal 10xHis-tagged and C-terminal Myc-tagged
MW:40.2 kDa
Alternative Name(s):HLA-H
Relevance:Binds to transferrin receptor (TFR) and reduces its affinity for iron-loaded transferrin.
Reference:"The haemochromatosis candidate gene HFE (HLA-H) of man and mouse is located in syntenic regions within the histone gene." Albig W., Drabent B., Burmester N., Bode C., Doenecke D. J. Cell. Biochem. 69:117-126(1998)
Purity:Greater than 85% as determined by SDS-PAGE.
Form:Liquid or Lyophilized powder
Buffer:If the delivery form is liquid, the default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol. If the delivery form is lyophilized powder, the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, pH 8.0.
Reconstitution:We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20?/-80?. Our default final concentration of glycerol is 50%. Customers could use it as reference.
Storage:The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself. Generally, the shelf life of liquid form is 6 months at -20?/-80?. The shelf life of lyophilized form is 12 months at -20?/-80?.
Notes:Repeated freezing and thawing is not recommended. Store working aliquots at 4? for up to one week.
Function:Binds to transferrin receptor (TFR) and reduces its affinity for iron-loaded transferrin.
Involvement in disease:Hemochromatosis 1 (HFE1); Variegate porphyria (VP); Microvascular complications of diabetes 7 (MVCD7)
Subcellular Location:Cell membrane, Single-pass type I membrane protein
Protein Families:MHC class I family
Tissue Specificity:Expressed in all tissues tested except brain.
Paythway:
HGNC Database Link:https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=HGNC:4886
UniGene Database Link:https://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=233325
KEGG Database Link:https://www.genome.jp/dbget-bin/www_bget?hsa:3077
STRING Database Link:https://string-db.org/network/9606.ENSP00000417404
OMIM Database Link:https://www.omim.org/entry/176200176200176200
Lead Time Guidance:3-7 business days