NP_997717.2
[Other Products]
NCBI GenBank Nucleotide #
|
[Other Products]
UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
11,569 Da
NCBI Official Full Name
bolA-like protein 3 isoform 1
NCBI Official Synonym Full Names
bolA family member 3
NCBI Official Synonym Symbols
NCBI Protein Information
bolA-like protein 3; bolA homolog 3
UniProt Protein Name
BolA-like protein 3
UniProt Entry Name
BOLA3_HUMAN
NCBI Summary for BOLA3
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 Comments for BOLA3
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
Cellular Component: extracellular region
Disease: Multiple Mitochondrial Dysfunctions Syndrome 2
Research Articles on BOLA3
Precautions
All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.
Disclaimer
While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice. It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.
Products associated with BOLA3 elisa kit
Diseases associated with BOLA3 elisa kit
Organs/Tissues associated with BOLA3 elisa kit
|