PET100
entrez
100131801
canonical
uniprot
P0DJ07
canonical
ensembl
ENSG00000229833
resolver
ensp
ENSP00000470539
resolver
enst
ENST00000594797
resolver
genesymbol
PET100
resolver
genesymbol_syn
C19orf79
resolver
hgnc
HGNC:40038
resolver
uniprot_entry
PT100_HUMAN
resolver
amino_acid_sequence
MGVKLEIFRMIIYLTFPVAMFWVSNQAEWFEDDVIQRKRELWPPEKLQEIEEFKERLRKRREEKLLRDAQQNS
uniprot
proteins
disease_involvement
DISEASE: Mitochondrial complex IV deficiency, nuclear type 12 (MC4DN12) [MIM:619055]: An autosomal recessive mitochondrial disorder with onset in early infancy. MC4DN12 features include poor overall growth, metabolic acidosis, profoundly delayed psychomotor development, seizures, hypotonia, and brain abnormalities. Death may occur in the first years of life. Serum lactate and creatine kinase levels are increased. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV. {ECO:0000269|PubMed:24462369, ECO:0000269|PubMed:25293719}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Plays an essential role in mitochondrial complex IV maturation and assembly. {ECO:0000269|PubMed:24462369, ECO:0000269|PubMed:25293719}.
uniprot
proteins
mass_dalton
9114
uniprot
proteins
protein_family
PET100 family
uniprot
proteins
pubmed
15057824
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
22356826
uniprot
proteins
pubmed
24462369
uniprot
proteins
pubmed
25293719
uniprot
proteins
sequence_length
73
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}. Mitochondrion {ECO:0000250|UniProtKB:P0DJE0}. Mitochondrion inner membrane {ECO:0000269|PubMed:24462369}.
uniprot
proteins
transmembrane_region
TRANSMEM 7..24; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins