Human BOLA3 Recombinant Protein (RPPB2903)

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RPPB2903

Description

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Product Name:Human BOLA3 Recombinant Protein
Product Code:RPPB2903
Size:20µg
Species:Human
Target:BOLA3
Synonyms:BolA Family Member 3, MMDS2, BolA Homolog 3 (E. Coli), BolA-Like3 (E. Coli), BolA-Like Protein 3, BolA Homolog 3, BolA-like protein 3.
Source:Escherichia Coli
Physical Appearance:Sterile Filtered colorless solution.
Formulation:BOLA3 protein solution (1mg/ml) containing Phosphatebuffered saline (pH7.4) and 10% glycerol.
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 95.0% as determined by SDS-PAGE.
Amino Acid Sequence:MGSSHHHHHH SSGLVPRGSH MGSMAAWSPA AAAPLLRGIR GLPLHHRMFA TQTEGELRVT QILKEKFPRATAIKVTDISG GCGAMYEIKI ESEEFKEKRT VQQHQMVNQA LKEEIKEMHG LRIFTSVPKR

BolA Homolog 3, also known as BOLA3 is a member of the BolA/IbaG family.BOLA3 is novel non-classical secreted protein which his secretion is nondependent on its predicted signal peptide.�Furthermore, Human BolAs belongs to three different groups withfunctional divergence of BolA subfamily, where the different helix-turn-helixmotif among BOLA 1, BOLA 2, as well as BOLA3 is responsible for theirfunctional divergence.

BOLA3 Human Recombinant produced in E.Coli is a single,non-glycosylated polypeptide chain containing 130 amino acids (1-107 a.a) andhaving a molecular mass of 14.5kDa.BOLA3 is fused to a 23amino acid His-tag at N-terminus & purified by proprietary chromatographictechniques.

UniProt Protein Function:BOLA3: Defects in BOLA3 are the cause of multiple mitochondrial dysfunctions syndrome type 2 (MMDS2). A severe disorder of systemic energy metabolism, resulting in weakness, respiratory failure, lack of neurologic development, lactic acidosis, hyperglycinemia and early death. Some patients show failure to thrive, pulmonary hypertension, hypotonia and irritability. Biochemical features include severe combined deficiency of the 2-oxoacid dehydrogenases, defective lipoic acid synthesis and reduction in activity of mitochondrial respiratory chain complexes. Belongs to the bolA/yrbA family.
UniProt Protein Details:

Protein type:Unknown function

Chromosomal Location of Human Ortholog: 2p13.1

Cellular Component: extracellular region

Disease: Multiple Mitochondrial Dysfunctions Syndrome 2

NCBI Summary:This gene encodes a protein that plays an essential role in the production of iron-sulfur (Fe-S) clusters for the normal maturation of lipoate-containing 2-oxoacid dehydrogenases, and for the assembly of the mitochondrial respiratory chain complexes. Mutation in this gene has been associated with multiple mitochondrial dysfunctions syndrome-2. Two alternatively spliced transcript variants encoding different isoforms with distinct subcellular localization have been reported for this gene (PMID:21944046). [provided by RefSeq, Dec 2011]
UniProt Code:Q53S33
NCBI GenInfo Identifier:78486586
NCBI Gene ID:388962
NCBI Accession:NP_997717.2
UniProt Secondary Accession:Q53S33,G3XAB0,
UniProt Related Accession:Q53S33
Molecular Weight:11,569 Da
NCBI Full Name:bolA-like protein 3 isoform 1
NCBI Synonym Full Names:bolA family member 3
NCBI Official Symbol:BOLA3��
NCBI Official Synonym Symbols:MMDS2��
NCBI Protein Information:bolA-like protein 3; bolA homolog 3
UniProt Protein Name:BolA-like protein 3
Protein Family:BolA-like protein
UniProt Gene Name:BOLA3��
UniProt Entry Name:BOLA3_HUMAN
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Additional Information

Product Type:
Recombinant Protein
Species:
Human
Uniprot:
Q53S33
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