Property Summary

NCBI Gene PubMed Count 12
Grant Count 4
R01 Count 4
Funding $162,673.67
PubMed Score 7.55
PubTator Score 7.39

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (4)

Disease log2 FC p
cystic fibrosis -1.013 0.000
medulloblastoma, large-cell -1.200 0.017
group 3 medulloblastoma 1.200 0.003
ovarian cancer -1.100 0.002

Synonym

Accession Q5RI15 Q8WV86
Symbols FAM36A

Gene

Gene RIF (5)

PMID Text
24403053 COX20 cooperates with SCO1 and SCO2 to mature COX2 and promote the assembly of cytochrome c oxidase.
24202787 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.
23125284 The function of the human gene FAM36A/COX20 in complex IV assembly and role of the gene in complex IV deficiency.
22678713 These results suggest that HNRNPU, FAM36A, and NCRNA00201 are not major genes for microcephaly and corpus callosum abnormalities but are good candidates for intellectual disability (ID) and seizures.
20877624 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MAAPPEPGEPEERKSLKLLGFLDVENTPCARHSILYGSLGSVVAGFGHFLFTSRIRRSCDVGVGGFILVT      1 - 70
LGCWFHCRYNYAKQRIQERIAREEIKKKILYEGTHLDPERKHNGSSSN                           71 - 118
//

Text Mined References (15)

PMID Year Title
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
24403053 2014 Human COX20 cooperates with SCO1 and SCO2 to mature COX2 and promote the assembly of cytochrome c oxidase.
24202787 2014 Recessive dystonia-ataxia syndrome in a Turkish family caused by a COX20 (FAM36A) mutation.
23125284 2013 A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia.
22678713 2012 Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures.
22356826 2012 Iterative orthology prediction uncovers new mitochondrial proteins and identifies C12orf62 as the human ortholog of COX14, a protein involved in the assembly of cytochrome c oxidase.
22223895 2012 Comparative large scale characterization of plant versus mammal proteins reveals similar and idiosyncratic N-?-acetylation features.
21269460 2011 Initial characterization of the human central proteome.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
More...