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| Cat.No | ACP17285 | Target Name | BOLA3 |
|---|---|---|---|
| Target Synonyms | BolA-like protein 3; BOLA3; BOLA3_HUMAN; MMDS2 | Form | Lyophilized powder |
| Expression System | Custom Production. Please inquire and provide the desire expression system. | Expression Range | 1-107 |
| Protein Length | Full length protein | Purity | >85% (SDS-PAGE) |
| Storage Buffer | 5%-50% glycerol. Lyophilized powder form: the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, Liquid form: default storage buffer is Tris/PBS-based buffer, pH 8.0. |
| Target Species | Human | Uniprot ID | Q53S33 |
|---|
Uniprot Id
Q53S33
Target Species
Human
Target Name
BOLA3
Target Full Name
BolA-like protein 3
Target Function
Acts as a mitochondrial iron-sulfur (Fe-S) cluster assembly factor that facilitates (Fe-S) cluster insertion into a subset of mitochondrial proteins. Probably acts together with NFU1.
Target Involvement
Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia (MMDS2)
Target Subcellular Location
Mitochondrion.
Target Protein Families
BolA/IbaG family
Target Tissue Specificity
Widely expressed.
Target Synonyms
BolA-like protein 3; BOLA3; BOLA3_HUMAN; MMDS2
Target Background
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).
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