Human ISCU Recombinant Protein (RPPB3756)

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RPPB3756

Description

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Product Name:Human ISCU Recombinant Protein
Product Code:RPPB3756
Size:5µg
Species:Human
Target:ISCU
Synonyms:Iron-sulfur cluster assembly enzyme ISCU mitochondrial, NifU-like N-terminal domain-containing protein, NifU-like protein, ISCU, NIFUN, HML, ISU2, NIFU, hnifU, MGC74517, 2310020H20Rik.
Source:Escherichia Coli
Physical Appearance:Sterile Filtered colorless solution.
Formulation:The ISCU solution (0.5 mg/ml) 20mM Tris-HCl buffer (pH8.0), 10% glycerol, 2mM DTT and 100mM NaCl.
Stability:Store at 4°C if entire vial will be used within 2-4 weeks. Store, frozen at -20°C for longer periods of time.�For long term storage it is recommended to add a carrier protein (0.1% HSA or BSA).Avoid multiple freeze-thaw cycles.
Purity:Greater than 90.0% as determined by SDS-PAGE.
Amino Acid Sequence:MGSSHHHHHH SSGLVPRGSH MYHKKVVDHY ENPRNVGSLD KTSKNVGTGL VGAPACGDVM KLQIQVDEKG KIVDARFKTF GCGSAIASSS LATEWVKGKT VEEALTIKNT DIAKELCLPP VKLHCSMLAE DAIKAALADY KLKQEPKKGE AEKK

Iron-sulfur cluster assembly enzyme (ISCU) belongs to the nifU family. Iron-sulfur (Fe-S) clusters are required for several mitochondrial enzymes and other subcellular compartment proteins. ISCU interacts with ISCS (a cysteine desulfurase) to sequester inorganic sulfur for Fe-S cluster assembly. The ISCU-ISCS protein complex localizes in both mitochondria and cytosol, implying that Fe-S cluster assembly occurs in multiple subcellular compartments in mammalian cells.

ISCU Human Recombinant fused with a 21 amino acid His tag at N-terminus produced in E.Coli is a single, non-glycosylated, polypeptide chain containing 154 amino acids (35-167 a.a.) and having a molecular mass of 16.7kDa. The ISCU is purified by proprietary chromatographic techniques.

UniProt Protein Function:ISCU: Involved in the assembly or repair of the [Fe-S] clusters present in iron-sulfur proteins. Binds iron. Defects in ISCU are the cause of myopathy with exercise intolerance Swedish type (MEIS); also known as myopathy with deficiency of succinate dehydrogenase and aconitase or myoglobinuria due to abnormal glycolysis or hereditary myopathy with lactic acidosis (HML). This autosomal recessive metabolic disease is characterized by lifelong severe exercise intolerance, in which minor exertion causes fatigue of active muscles, shortness of breath, and cardiac palpitations in association with lactic acidosis. The biochemical phenotype is characterized by a deficiency in mitochondrial iron-sulfur proteins and impaired muscle oxidative metabolism. Belongs to the NifU family. 2 isoforms of the human protein are produced by alternative splicing.
UniProt Protein Details:

Protein type:Mitochondrial

Chromosomal Location of Human Ortholog: 12q24.1

Cellular Component: mitochondrion; mitochondrial matrix; cytoplasm; cytosol; nucleus

Molecular Function:protein binding; iron ion binding; iron-sulfur cluster binding; protein complex scaffold

Biological Process: iron-sulfur cluster assembly; nitrogen fixation

Disease: Myopathy With Lactic Acidosis, Hereditary

NCBI Summary:This gene encodes a component of the iron-sulfur (Fe-S) cluster scaffold. Fe-S clusters are cofactors that play a role in the function of a diverse set of enzymes, including those that regulate metabolism, iron homeostasis, and oxidative stress response. Alternative splicing results in transcript variants encoding different protein isoforms that localize either to the cytosol or to the mitochondrion. Mutations in this gene have been found in patients with hereditary myopathy with lactic acidosis. A disease-associated mutation in an intron may activate a cryptic splice site, resulting in the production of a splice variant encoding a putatively non-functional protein. A pseudogene of this gene is present on chromosome 1. [provided by RefSeq, Feb 2016]
UniProt Code:Q9H1K1
NCBI GenInfo Identifier:313104118
NCBI Gene ID:23479
NCBI Accession:Q9H1K1.2
UniProt Related Accession:Q9H1K1
Molecular Weight:18kDa
NCBI Full Name:Iron-sulfur cluster assembly enzyme ISCU, mitochondrial
NCBI Synonym Full Names:iron-sulfur cluster assembly enzyme
NCBI Official Symbol:ISCU��
NCBI Official Synonym Symbols:HML; ISU2; NIFU; NIFUN; hnifU; 2310020H20Rik��
NCBI Protein Information:iron-sulfur cluster assembly enzyme ISCU, mitochondrial
UniProt Protein Name:Iron-sulfur cluster assembly enzyme ISCU, mitochondrial
UniProt Synonym Protein Names:NifU-like N-terminal domain-containing protein; NifU-like protein
Protein Family:Iron-sulfur cluster assembly enzyme
UniProt Gene Name:ISCU��
UniProt Entry Name:ISCU_HUMAN
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Additional Information

Product Type:
Recombinant Protein
Species:
Human
Uniprot:
Q9H1K1
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