BOLA3 Antibody, Biotin conjugated (PACO48633)
- SKU:
- PACO48633
- Product type:
- Antibody
- Reactivity:
- Human
- Host Species:
- Rabbit
- Isotype:
- IgG
- Application:
- ELISA
- Antibody type:
- Polyclonal
- Conjugation:
- Biotin
Frequently bought together:
Description
抗体名: | BOLA3 Antibody, Biotin conjugated (PACO48633) |
抗体コード: | PACO48633 |
サイズ: | 50ug |
宿主種: | Rabbit |
申し込み: | ELISA |
推奨される希釈: | |
反応性: | Human |
免疫原: | Recombinant Human BolA-like protein 3 protein (1-79AA) |
憲法: | Liquid |
ストレージバッファ: | Preservative: 0.03% Proclin 300 Constituents: 50% Glycerol, 0.01M PBS, PH 7.4 |
精製方法: | >95%, Protein G purified |
抗体のクローン性: | Polyclonal |
アイソタイプ: | IgG |
Conjugate: | Biotin |
シノニム: | BolA-like protein 3, BOLA3 |
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 |