| Type | Description |
|---|---|
| Definition | cytochrome c oxidase assembly factor COX20 |
| Date | Results | Publications |
|---|---|---|
| 2020-02-29 10:42:00 | Study reports on four subjects with features that include childhood hypotonia, areflexia, ataxia, dysarthria, dystonia, and sensory neuropathy. Exome sequencing in all four subjects identified the same novel COX20 variants. One variant affected the splice donor site of intron-one (c.41A>G), while the other variant (c.157+3G>C) affected the splice donor site of intron-two. | 30656193 |
| 2019-07-13 10:48:00 | COX20 mutation are associated with autosomal recessive axonal neuropathy and static encephalopathy. | 31079202 |
| 2018-04-21 10:21:00 | data shows that by unbalancing the amount of TMEM177, newly synthesized COX2 accumulates in a COX20-associated state. | 29154948 |
| 2015-01-17 12:42:00 | COX20 cooperates with SCO1 and SCO2 to mature COX2 and promote the assembly of cytochrome c oxidase. | 24403053 |
| 2014-09-20 12:35:00 | This study deministrated that phenotypic spectrum of mutation in COX20 to a recessively inherited, early-onset dystonia-ataxia syndrome that is characterized by reduced complex IV activity. | 24202787 |
| Type | IDs |
|---|---|
| Synonymous | FAM36A |
| Gene |
UniProtKB-ID:
COX20_HUMAN,
B3KM21_HUMAN
UniprotKB:
Q5RI15,
B3KM21
UniParc:
UPI00001D7E54,
UPI000006D3AA
EMBL:
BC018519,
BX323046,
CH471148,
AK000866,
BC062419,
AK125259,
BC095486
Ensembl:
ENSG00000203667
KO:
hsa:116228
|
| Nucleutide sequences |
EMBL-CDS:
AAH18519.1,
AAH95486.1,
AAH62419.1,
EAW77120.1,
BAG50833.1,
BAG54176.1
Gene_ORFName:
hCG_1640805
Ensembl_TRS:
ENST00000366528,
ENST00000411948
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000406327,
ENSP00000355486
RefSeq:
NP_932342.1,
NP_001299800.1,
NP_001299801.1,
NP_001299802.1,
NP_001299803.1
|
| Others |
UniRef100:
UniRef100_Q5RI15
UniRef90:
UniRef90_Q5RI15
UniRef50:
UniRef50_Q5RI15
UniGene:
Hs.411490
CCDS:
CCDS31080.1,
CCDS81434.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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