Gene Name | COA5 |
|
Specie | Homo sapiens | |
Full Name | cytochrome c oxidase assembly factor 5 | |
Also known as | 6330578E17Rik|C2orf64|CEMCOX3|MC4DN9|Pet191 | |
Coordinate | chr2:98599314-98608512 | |
Strand | - | |
Gene summary | This gene encodes an ortholog of yeast Pet191, which in yeast is a subunit of a large oligomeric complex associated with the mitochondrial inner membrane, and required for the assembly of the cytochrome c oxidase complex. Mutations in this gene are associated with mitochondrial complex IV deficiency, a disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations, ranging from isolated myopathy to a severe disease affecting several tissues and organs. [provided by RefSeq, Dec 2011] |
Retroname | Coord | Strand | Genomic Region | ENSG | |
---|---|---|---|---|---|
COA5P1 | chr1:110256753-110257401 | + |
Intragenic |
ENSG00000282852 | UCSC |
>NM_001008215.3 |
GCCGCTGGCTTCCGGTCCCCTGAGACTGGGGCCTCGCTCGCTCCCGACCCGGTTGCAAGTGTTGCGGTGGGAGAAAGTCGCGTCCGCATCGGAGGGGAAGCGCCGTCATGCCTAAGTATTATGAGGACAAGCCGCAGGGCGGCGCGTGCGCGGGCCTGAAGGAGGACCTGGGCGCGTGTCTGCTGCAGTCGGACTGTGTGGTCCAGGAAGGAAAATCACCTCGGCAGTGTTTGAAGGAAGGATACTGCAACTCTTTGAAGTACGCATTTTTTGAGTGTAAAAGATCAGTGTTGGATAACAGGGCAAGATTCAGAGGAAGAAAAGGATATTGATGCATTATGTTGAAGCCAACATGGAAAACAACAAATATTTTCCCTGGTCATTAACACAAAGAAGCCAAAACAGGAAACATACTTTTTACTACATCTGTTTGGTTGGACCAGATTTCCCCTCCGTGGAACACTGAAGAAAGTGGATGAGTTGTTTTCGAATATGTATAAAGTAAATGATTCTCTTGATCCAAGTTATTTTTAGAAGAAAAACCTAATTGAACAGGTATGGGTTGGGAGCATAATAAATGTGTTTTGAGAATTGTTCTAAAGCACAGAAAATGGAAAGACTGTTATTTGCAAACTTGACTCTTCAATTGAATTACCCAATTAGTACAGGCCACTGATTTGACTGACACAGTCGATAACATGCAGCCTATCCAGAAGGTGTCTGTTGGGAAAGTTTAGGATAAAACTTTTTCTTTAGTTCAGTCTTTTCCTGTCTAGTTCTAAAATGAATTGTGTTTGATTCCTTAGAGAAGAAATACTTCATTTGTGCTCTGATTCACTGAAGTAATAACCTCAGCACTTTAATAGCGTCCAcaggcatagctgatgctaggccccagattgtgttgcccaggctctttaccatcatcttcggactgtttttgtttcctggttacattttcagtctggcccgctctacataatgggccagtgtcagctccaagtccacatccttattatccatgattcaaaagggagagagagaacttcctttttcagggtccacaaatcaaatctataaaaggactctggtcttcccaggatcacctgcccttgcattggaccagtccctgtggaagaggggatgggggcctgtgatcttggccaggcctgggctatctatctgcactgtcattgctaactcctgtcagaatcacatggatgagtagtgggctgaatcccaaaaggaaaggggtTTAGAGCAAGTGGAAACAACAGATGTTCACTATAGAAAGCAAGAATGAAAACCATGAAGTGGTTGAAGATTAGCCTTACAGTAATTTTATTCTGATCACTTAATACAGTAGAGTCAAACAGGAATCCAAGTTTCCAACTTTATTATTTTTGGCACTGAAGAATTACAAAGAACTCTAGCGTCTTTATACCTCCGTGGTTCACTGGAGTTAAAGCAATCGGGGCGTTGTACAGCTCACTTGAGTTTTTAAAGGTTCTACTAAAAAGTGAGAATTCCACAGCAATATGGGTCATTGTTGCAGAATATCACAAAGGTCTGTTGTGTATACTCCTTTTCACCAGGAAAGGGACAATAATAGTTTTTTTCAATGTATATATATATAAGTGATCTAACTTTTTATTAATAAAAGTAAACAACTCTAAAATGTATATTATAAAGCCCTGTCATCTTTGTTGagtaatagctttattgagctttatttggagaaatacacataccgtaaaattcacactgaaa |