PET117
entrez
100303755
canonical
uniprot
Q6UWS5
canonical
ensembl
ENSG00000232838
resolver
ensp
ENSP00000397881
resolver
enst
ENST00000432901
resolver
genesymbol
PET117
resolver
hgnc
HGNC:40045
resolver
uniprot_entry
PT117_HUMAN
resolver
amino_acid_sequence
MSRSSKVVLGLSVLLTAATVAGVHVKQQWDQQRLRDGVIRDIERQIRKKENIRLLGEQIILTEQLEAEREKMLLAKGSQKS
uniprot
proteins
disease_involvement
DISEASE: Mitochondrial complex IV deficiency, nuclear type 19 (MC4DN19) [MIM:619063]: An autosomal recessive mitochondrial disorder with onset in infancy or early childhood. MC4DN19 is characterized by global developmental delay, impaired intellectual development, developmental regression, loss of acquired motor and language skills, and motor dysfunction. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV. {ECO:0000269|PubMed:28386624}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
mass_dalton
9223
uniprot
proteins
protein_family
PET117 family
uniprot
proteins
pubmed
11780052
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
22356826
uniprot
proteins
pubmed
28386624
uniprot
proteins
sequence_length
81
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:22356826}.
uniprot
proteins