Gene Name | COX20 |
|
Specie | Homo sapiens | |
Full Name | cytochrome c oxidase assembly factor COX20 | |
Also known as | FAM36A|MC4DN11 | |
Coordinate | chr1:244835306-244845063 | |
Strand | + | |
Gene summary | This gene encodes a protein that plays a role in the assembly of cytochrome C oxidase, an important component of the respiratory pathway. It contains two transmembrane helices and localizes to the mitochondrial membrane. Mutations in this gene can cause mitochondrial complex IV deficiency, which results in ataxia and muscle hypotonia. There are multiple pseudogenes for this gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015] |
Retroname | Coord | Strand | Genomic Region | ENSG | |
---|---|---|---|---|---|
COX20P1 | chr10:68632336-68632836 | + |
Intragenic |
ENSG00000213025 | UCSC |
COX20P2 | chr2:230957503-230957972 | + |
Intragenic |
ENSG00000235013 | UCSC |
COX20P3 | chr17:76595566-76595775 | - |
Intergenic |
ENSG00000267084 | UCSC |
>NM_001312871.1 |
GTGCGTGTGAGCACGCGCGCCGGAGACGGCTGTGTGCCGAGCTTGGAAGAAAGTGTGACCCGTTCGACGGAACAAAGGACATGACAGCCCGGCCCCGTGCGGCCACTGCGGAGCGTTAGGAACATTCCCTAAAATGGCGGCCGGCGCGTCGGAACAGGGCGGGAGGCGGCGGCGCGTGGGGGCGGGACGGGGAGGGGCGCGGCCAGCCGGGCTTCTGCTTCCGCGACCCCGGCGGTGCAGGGCGGGTGGAGTCGCGGAGTAGTCCTCATGGCCGCCCCGCCGGAGCCCGGTGAGCCCGAGGAGAGGAAGTCCCTTAAGCTCCTAGGATTTTTAGATGTTGAAAATACTCCCTGCGCCCGGCATTCAATATTGTATGGTTCATTAGGATCTGTTGTGGCTGGCTTTGGACATTTTTTGTTCACTAGTAGAATTAGAAGATCATGTGATGTTGGAGTAGGAGGGTTTATCTTGGTGACTTTGGGATGCTGGTTTCATTGTAGGTATAATTATGCAAAGCAAAGAATCCAGGAAAGAATTGCCAGAGAAGAAATTAAAAAGAAGATATTATATGAAGGTACCCACCTCGATCCTGAAAGAAAACACAACGGCAGCAGCAGCAATTGAACAATCTTGAGCATAGAAGTCAATGTAAACGAAGTTAAGATCAACCACATAAAACATTTCATGTGCAATAAGCTCTCAATCAAGTAAATAAAGTTTAAGTTGTAGTCATTTTTTTCCCACACTTGTGTGGAATGAAAACTTGCCAGTTTATTCTGGCCCTGTGTCTACTGCCAGGATAGCATTCTTACGTGTTACATATAGTGGACTTGTCATCCTTAAAATGTGAACAGAATTTATTGGCAGTGTGGCAAAGAATTATAAAACATAGTGTTTAATGTACTTGGAGTTTCCTTGTAGTAGTAAGTATAGAGTTTGATGATAAGTAAACGTCCCTTAACAAAAACCTCAACCTTATTACTATCCCATTAAAAAACAGCAAATACTTACTGAGTTCTTGTAAGAGCTAATGTCATTGTAAGATTTAAAACTAAGGGCTTTTATCACTTTGCAAATTATTTTTTAAATGCATTCATCATTTGACAGTGTTCTCTCATTTCTTAAAATGCGAGTCATCTTCCAAAAGAGTTGTTTTTAACTGCCCTAAACATTTTTGGGGAAGTATGCAGGGTTTAAATTTTTAAGTATAATTAGTTCTGAATTAAAATATGCACATGGAACTTGTCTGGCAGACTGATGCAATAGTAAAACAACTGCAGAATTACTATTAATGTAAACAATCCATTTGAAAGTCAATCAGCTGCTCCCATTAAAATATTATTTAAAATACAATACCCACAGCATCTAACTAAATCCTCAGGATTTATTCTCCGGGAGAAATTATCCCTTTCTAGGAAAATGAAGTTATTTCTGGTTTTAATTCATACAATACTTTAAGAAAATCTGTTAAATATAACAAAACACAAGCTAGATGCTTAAGAAATGCTTAAAGAAATATTGGGGCGAAGGTAACAGCAGTCAACAGGATTGTGGCCATTACTGGTCCTATTATTTTGATGTACCATGGAAGGCACAGAAATCGAGCAAGGAAGAAAATATTAGTTATTTTGATCTACATCTTTTTCTAAAGAAAAGTGGAGCTTGCCTCCAGTTCAATTCACAAGAGCATTTTCCCTCCCATGCCCACCTTTTCTTGTGGCTGTCGCTAGGAAGGATGCAGAGGCTGTGTGGTTTACCAAATGCCTTAACTTAGCAGTGAATGACAACTGTCAAACACATGTTGAGGGAAAATTTTTACTGATTCACAAAAAGGAAGACAGTTTGCCCACTCTTAGTGGCACAAATCAAAGCTGCATGCACTACATTATCCAAATTAGTCGTAACCAAATAGTTAAAAAATTCTgctgggcacggtggctcatacctgtaatcccagcactttgggaggccgaggcagttggatcacctgaggttaggagtttgagaccagcctggccaacagggtgaaaccctgtctcgtctaaaaatacaaaaattagccgggcgtggtggtgcatgcctgtagtcccaggtactcaggaggctgaggcaggagaatcacttgaacccgaggtggggcaggcggaggttgcagtaagccaagatcgcgccattgcactctagcctaggtgacagagtgagactccatctcaaaaaaaaaaaaaaaTTCCATAGGATGTTCAACCATGTTTTCAGAGGCCGCACTGCATGAATGCGGGAAAATGTTGATGATCACTAATCAATAATCTGATATTTAACAAAATATGGACAGGCCACTTATGCTCAGTTTTACCTTAGTTATTCCTTGGTatccacaggcccaagtccctttaaataaaataccctcatatttccatataatctacatacattctcccatatactttaaatcatctctagattacttataatgtctaatacaaaataaatgctatgtaaatgtaattatta |
>NM_001312873.1 |
GCTGTGTGCCGAGCTTGGAAGAAAGTGTGACCCGTTCGACGGAACAAAGGACATGACAGCCCGGCCCCGTGCGGCCACTGCGGAGCGTTAGGAACATTCCCTAAAATGGCGGCCGGCGCGTCGGAACAGGGCGGGAGGCGGCGGCGCGTGGGGGCGGGACGGGGAGGGGCGCGGCCAGCCGGGCTTCTGCTTCCGCGACCCCGGCGGTGCAGGGCGGGTGGAGTCGCGGAGTAGTCCTCATGGCCGCCCCGCCGGAGCCCGGTAGAATTAGAAGATCATGTGATGTTGGAGTAGGAGGGTTTATCTTGGTGACTTTGGGATGCTGGTTTCATTGTAGGTATAATTATGCAAAGCAAAGAATCCAGGAAAGAATTGCCAGAGAAGAAATTAAAAAGAAGATATTATATGAAGGTACCCACCTCGATCCTGAAAGAAAACACAACGGCAGCAGCAGCAATTGAACAATCTTGAGCATAGAAGTCAATGTAAACGAAGTTAAGATCAACCACATAAAACATTTCATGTGCAATAAGCTCTCAATCAAGTAAATAAAGTTTAAGTTGTAGTCATTTTTTTCCCACACTTGTGTGGAATGAAAACTTGCCAGTTTATTCTGGCCCTGTGTCTACTGCCAGGATAGCATTCTTACGTGTTACATATAGTGGACTTGTCATCCTTAAAATGTGAACAGAATTTATTGGCAGTGTGGCAAAGAATTATAAAACATAGTGTTTAATGTACTTGGAGTTTCCTTGTAGTAGTAAGTATAGAGTTTGATGATAAGTAAACGTCCCTTAACAAAAACCTCAACCTTATTACTATCCCATTAAAAAACAGCAAATACTTACTGAGTTCTTGTAAGAGCTAATGTCATTGTAAGATTTAAAACTAAGGGCTTTTATCACTTTGCAAATTATTTTTTAAATGCATTCATCATTTGACAGTGTTCTCTCATTTCTTAAAATGCGAGTCATCTTCCAAAAGAGTTGTTTTTAACTGCCCTAAACATTTTTGGGGAAGTATGCAGGGTTTAAATTTTTAAGTATAATTAGTTCTGAATTAAAATATGCACATGGAACTTGTCTGGCAGACTGATGCAATAGTAAAACAACTGCAGAATTACTATTAATGTAAACAATCCATTTGAAAGTCAATCAGCTGCTCCCATTAAAATATTATTTAAAATACAATACCCACAGCATCTAACTAAATCCTCAGGATTTATTCTCCGGGAGAAATTATCCCTTTCTAGGAAAATGAAGTTATTTCTGGTTTTAATTCATACAATACTTTAAGAAAATCTGTTAAATATAACAAAACACAAGCTAGATGCTTAAGAAATGCTTAAAGAAATATTGGGGCGAAGGTAACAGCAGTCAACAGGATTGTGGCCATTACTGGTCCTATTATTTTGATGTACCATGGAAGGCACAGAAATCGAGCAAGGAAGAAAATATTAGTTATTTTGATCTACATCTTTTTCTAAAGAAAAGTGGAGCTTGCCTCCAGTTCAATTCACAAGAGCATTTTCCCTCCCATGCCCACCTTTTCTTGTGGCTGTCGCTAGGAAGGATGCAGAGGCTGTGTGGTTTACCAAATGCCTTAACTTAGCAGTGAATGACAACTGTCAAACACATGTTGAGGGAAAATTTTTACTGATTCACAAAAAGGAAGACAGTTTGCCCACTCTTAGTGGCACAAATCAAAGCTGCATGCACTACATTATCCAAATTAGTCGTAACCAAATAGTTAAAAAATTCTgctgggcacggtggctcatacctgtaatcccagcactttgggaggccgaggcagttggatcacctgaggttaggagtttgagaccagcctggccaacagggtgaaaccctgtctcgtctaaaaatacaaaaattagccgggcgtggtggtgcatgcctgtagtcccaggtactcaggaggctgaggcaggagaatcacttgaacccgaggtggggcaggcggaggttgcagtaagccaagatcgcgccattgcactctagcctaggtgacagagtgagactccatctcaaaaaaaaaaaaaaaTTCCATAGGATGTTCAACCATGTTTTCAGAGGCCGCACTGCATGAATGCGGGAAAATGTTGATGATCACTAATCAATAATCTGATATTTAACAAAATATGGACAGGCCACTTATGCTCAGTTTTACCTTAGTTATTCCTTGGTatccacaggcccaagtccctttaaataaaataccctcatatttccatataatctacatacattctcccatatactttaaatcatctctagattacttataatgtctaatacaaaataaatgctatgtaaatgtaattatta |