Rabbit anti-Human BOLA3 Polyclonal Antibody | anti-BOLA3 antibody

BOLA3 Antibody

Cat. Num. AAA7050377

• Gene Names: BOLA3; MMDS2
• Reactivity: Human
• Applications: ELISA, Immunohistochemistry
• Purity: >95%, Protein G purified
• Synonyms: BOLA3; Polyclonal Antibody; BOLA3 Antibody; BolA-like protein 3; anti-BOLA3 antibody

• Host: Rabbit
• Reactivity: Human
• Clonality: Polyclonal
• Isotype: IgG
• Purity/Purification: >95%, Protein G purified
• Form/Format: Liquid
• Sequence Length: 101

• Applicable Applications for anti-BOLA3 antibody: ELISA (EIA), Immunohistochemistry (IHC)
• Application Notes: IHC: 1: 20-1: 200
• Immunogen: Recombinant Human BolA-like protein 3 protein (1-79AA)
• Preservative: 0.03% Proclin 300
• Constituents: 50% Glycerol, 0.01M PBS, PH 7.4
• Conjugation: Non-conjugated
• Preparation and Storage: Shipped at 4 degree C. Upon delivery aliquot and store at -20 degree C or -80 degree C. Avoid repeated freeze.

Immunohistochemistry (IHC)

(Immunohistochemistry of paraffin-embedded human kidney tissue using MBS7050377 at dilution of 1:100)

NCBI and Uniprot Product Information

• NCBI GI #: 78486578
• NCBI GeneID: 388962
• NCBI Accession #: NP_001030582.1
• NCBI GenBank Nucleotide #: NM_001035505.1
• UniProt Accession #: Q53S33; G3XAB0
• Molecular Weight: 11,569 Da
• NCBI Official Full Name: bolA-like protein 3 isoform 2
• NCBI Official Synonym Full Names: bolA family member 3
• NCBI Official Symbol: BOLA3
• NCBI Official Synonym Symbols: MMDS2
• NCBI Protein Information: bolA-like protein 3
• UniProt Protein Name: BolA-like protein 3
• Protein Family: BolA-like protein
• UniProt Gene Name: BOLA3
• UniProt Entry Name: BOLA3_HUMAN

NCBI Description

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 Description

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.

Protein type: Unknown function

Chromosomal Location of Human Ortholog: 2p13.1

Disease: Multiple Mitochondrial Dysfunctions Syndrome 2