protein 975 words KG: PET100PROTEIN
Contents

PET100 Protein

🔬 Protein Info
Gene SymbolPET100
Full NameProtein PET100 Homolog (Mitochondrial)
AliasesPET100 Protein
Functionis a small mitochondrial protein that plays a critical role in the assembly of cytochrome c oxidase (Complex IV) of the mitochondrial respiratory chain.
Molecular Weight10 kDa
Amino Acids79 aa
Ensembl IDENSG00000167701
GeneCardsPET100
Human Protein AtlasPET100
Clinical FeaturesDevelopmental regression, hypotonia, ataxia, dystonia, respiratory failure, lactic acidosis
NeuropathologyBilateral symmetric necrotic lesions in the brainstem, basal ganglia, and cerebellum
OnsetTypically in infancy or early childhood
PrognosisSevere, often fatal within years of onset
Associated Diseasesneurodegeneration
DatabasesGeneCardsUniProtNCBI GeneHPASTRING

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