Recombinant Human Hereditary hemochromatosis protein (HFE), partial | CSB-EP653744HU

Recombinant Human Hereditary hemochromatosis protein (HFE), partial | CSB-EP653744HU | Cusabio

Alternative Name(s): HLA-H

Gene Names: HFE

Research Areas: Metabolism

Organism: Homo sapiens (Human)

AA Sequence: RLLRSHSLHYLFMGASEQDLGLSLFEALGYVDDQLFVFYDHESRRVEPRTPWVSSRISSQMWLQLSQSLKGWDHMFTVDFWTIMENHNHSKESHTLQVILGCEMQEDNSTEGYWKYGYDGQDHLEFCPDTLDWRAAEPRAWPTKLEWERHKIRARQNRAYLERDCPAQLQQLLELGRGVLDQQVPPLVKVTHHVTSSVTTLRCRALNYYPQNITMKWLKDKQPMDAKEFEPKDVLPNGDGTYQGWITLAVPPGEEQRYTCQVEHPGLDQPLIVIWEPSPSGTLV

Source: E.coli

Tag Info: N-terminal 10xHis-tagged and C-terminal Myc-tagged

Expression Region: 23-306aa

Sequence Info: Extracellular Domain

MW: 40.2 kDa

Purity: Greater than 85% as determined by SDS-PAGE.

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)

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:

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.

Uniprot ID: Q30201

HGNC Database Link: HGNC

UniGene Database Link: UniGene

KEGG Database Link: KEGG

STRING Database Link: STRING

OMIM Database Link: OMIM