ALR Recombinant Protein | GFER recombinant protein

ALR Protein, Human, Recombinant (His Tag)

Cat. Num. AAA8121837

• Gene Names: GFER; ALR; HPO; HSS; ERV1; HPO1; HPO2; HERV1
• Purity: >90% as determined by SDS-PAGE
• Synonyms: ALR; ALR Protein; Human; Recombinant (His Tag); Human GFER/ALR Protein (His Tag); ERV1 Protein; HERV1 Protein; HPO Protein; HPO1 Protein; HPO2 Protein; HSS Protein; growth factor; augmenter of liver regeneration; GFER recombinant protein

• Host: HEK293 Cells
• Purity/Purification: >90% as determined by SDS-PAGE
• Form/Format: Lyophilized from sterile PBS, pH7.4. Normally 5%-8% trehalose, mannitol and 0.01% Tween80 are added as protectants before lyophilization. Please refer to the specific buffer information in the hard copy of CoA.
• Sequence: Met1-Asp125

• Species: Human
• Endotoxin: <1.0EU per ug protein as determined by the LAL method.
• Predicted N Terminal: Met
• Tag: C-His
• Protein Construction: A DNA sequence encoding the human GFER (NP_005253.3)(Met1-Asp125) was expressed with a polyhistidine tag at the C-terminus.
• Reconstitution: A hardcopy of COA with reconstitution instruction is sent along with the products. Please refer to it for detailed information.
• Preparation and Storage: Samples are stable for up to twelve months from date of receipt at -20 degree C to -80 degree C. Store it under sterile conditions at -20 degree C to -80 degree C. It is recommended that the protein be aliquoted for optimal storage. Avoid repeated freeze-thaw cycles.; In general, recombinant proteins are provided as lyophilized powder which are shipped at ambient temperature. Bulk packages of recombinant proteins are provided as frozen liquid.; They are shipped out with blue ice.

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Related Product Information for GFER recombinant protein

Background: Alterations in GFER gene have been associated with progressive mitochondrial myopathy, congenital cataracts, hearing loss, developmental delay, lactic acidosis and respiratory chain deficiency in 3 siblings born to consanguineous Moroccan parents by homozygosity mapping and candidate gene approach. Using homozygosity mapping, we discovered that a mutation in the GFER gene causes an infantile mitochondrial disorder.

NCBI and Uniprot Product Information

• NCBI GI #: 54112432
• NCBI GeneID: 2671
• NCBI Accession #: NP_005253.3
• NCBI GenBank Nucleotide #: NM_005262.2
• UniProt Accession #: P55789; Q53YM6; Q8TAH6; Q9H290; Q9UK40
• Molecular Weight: 15,029 Da
• NCBI Official Full Name: FAD-linked sulfhydryl oxidase ALR
• NCBI Official Synonym Full Names: growth factor, augmenter of liver regeneration
• NCBI Official Symbol: GFER
• NCBI Official Synonym Symbols: ALR; HPO; HSS; ERV1; HPO1; HPO2; HERV1
• NCBI Protein Information: FAD-linked sulfhydryl oxidase ALR; ERV1 homolog; erv1-like growth factor; hepatic regenerative stimulation substance; hepatopoietin protein
• UniProt Protein Name: FAD-linked sulfhydryl oxidase ALR
• Protein Family: FAD-linked sulfhydryl oxidase
• UniProt Gene Name: GFER
• UniProt Synonym Gene Names: ALR; HERV1; HPO; hERV1
• UniProt Entry Name: ALR_HUMAN

NCBI Description

The hepatotrophic factor designated augmenter of liver regeneration (ALR) is thought to be one of the factors responsible for the extraordinary regenerative capacity of mammalian liver. It has also been called hepatic regenerative stimulation substance (HSS). The gene resides on chromosome 16 in the interval containing the locus for polycystic kidney disease (PKD1). The putative gene product is 42% similar to the scERV1 protein of yeast. The yeast scERV1 gene had been found to be essential for oxidative phosphorylation, the maintenance of mitochondrial genomes, and the cell division cycle. The human gene is both the structural and functional homolog of the yeast scERV1 gene. [provided by RefSeq, Jul 2008]

Uniprot Description

GFER: Isoform 1: FAD-dependent sulfhydryl oxidase. Within the mitochondrial intermembrane space, participates in a chain of disulfide exchange reactions with MIA40, that generate disulfide bonds in a number of resident proteins with twin Cx3C and Cx9C motifs. Defects in GFER are a cause of mitochondrial progressive myopathy with congenital cataract hearing loss and developmental delay (MPMCHD); also called combined mitochondrial complex deficiency. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Mitochondrial; EC 1.8.3.2; Oxidoreductase

Chromosomal Location of Human Ortholog: 16p13.3-p13.12

Cellular Component: mitochondrion; cytoplasm; extracellular region; mitochondrial intermembrane space

Molecular Function: protein binding; FAD binding; growth factor activity; thiol oxidase activity; protein disulfide oxidoreductase activity

Biological Process: cellular protein metabolic process; protein targeting to mitochondrion

Disease: Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay