BOLA3
entrez
388962
canonical
uniprot
Q53S33
canonical
ensembl
ENSG00000163170
resolver
ensp
ENSP00000295326
resolver
ensp
ENSP00000331369
resolver
genesymbol
BOLA3
resolver
hgnc
HGNC:24415
resolver
uniprot
G3XAB0
resolver
uniprot
Q8N338
resolver
uniprot_entry
BOLA3_HUMAN
resolver
uniprot_entry
Q8N338_HUMAN
resolver
uniprot_sec
G3XAB0
resolver
amino_acid_sequence
MAAWSPAAAAPLLRGIRGLPLHHRMFATQTEGELRVTQILKEKFPRATAIKVTDISGGCGAMYEIKIESEEFKEKRTVQQHQMVNQALKEEIKEMHGLRIFTSVPKR
uniprot
proteins
disease_involvement
DISEASE: Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia (MMDS2) [MIM:614299]: 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. {ECO:0000269|PubMed:21944046, ECO:0000269|PubMed:22562699, ECO:0000269|PubMed:24334290, ECO:0000269|PubMed:26741492}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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 (PubMed:27532772). {ECO:0000250|UniProtKB:P39724, ECO:0000305|PubMed:27532772}.
uniprot
proteins
mass_dalton
12114
uniprot
proteins
protein_family
BolA/IbaG family
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
18548201
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21944046
uniprot
proteins
pubmed
22562699
uniprot
proteins
pubmed
22746225
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
24334290
uniprot
proteins
pubmed
26741492
uniprot
proteins
pubmed
27532772
uniprot
proteins
pubmed
7566098
uniprot
proteins
sequence_length
107
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:22746225}.
uniprot
proteins