Gene Name | BOLA3 |
|
Specie | Homo sapiens | |
Full Name | bolA family member 3 | |
Also known as | MMDS2 | |
Coordinate | chr2:74135400-74147912 | |
Strand | - | |
Gene 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] |
Retroname | Coord | Strand | Genomic Region | ENSG | |
---|---|---|---|---|---|
BOLA3P1 | chr11:102880709-102881038 | + |
Intergenic |
ENSG00000255469 | UCSC |
BOLA3P2 | chr19:9019332-9020156 | + |
Intergenic |
ENSG00000267332 | UCSC |
BOLA3P3 | chr5:126663149-126663688 | - |
Intergenic |
ENSG00000213630 | UCSC |
>NM_212552.3 |
ATACAGTGACCTCGGGCGGCGGGTCACGTCGGCCGGGCATGGCTGCATGGAGCCCGGCCGCGGCAGCGCCTCTCCTCCGCGGGATCCGCGGGCTTCCACTTCACCATCGGATGTTTGCCACTCAGACTGAGGGGGAGCTCAGAGTGACCCAAATTCTCAAAGAAAAGTTTCCACGAGCTACAGCTATAAAAGTCACTGACATTTCAGGAGGTTGTGGGGCGATGTATGAAATTAAAATTGAATCAGAAGAATTTAAGGAGAAGAGAACTGTCCAGCAGCACCAGATGGTTAATCAGGCACTAAAAGAAGAAATCAAAGAGATGCATGGATTGCGGATATTTACCTCTGTCCCCAAACGCTGACCACGCCCTGGCTGCATAGATgctgctgcttaagaccttggatgaacttcactgacatcattcttcccTAAGCAGTCACCAAAAAATTTATATATTTTGCTCATATACATTTCCATATTATAATTATAGAAGATGTATAATCTATTTAGATGTTAATTAAAGGAAACAAACAACTGAAGCTTTTGAAGGGTCA |