PET100 (PET100 cytochrome c oxidase chaperone)

Gene
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
100131801
Gene name Gene Name - the full gene name approved by the HGNC.
PET100 cytochrome c oxidase chaperone
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PET100
Synonyms (NCBI Gene) Gene synonyms aliases
C19orf79, MC4DN12
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19p13.2
Summary Summary of gene provided in NCBI Entrez Gene.
Mitochondrial complex IV, or cytochrome c oxidase, is a large transmembrane protein complex that is part of the respiratory electron transport chain of mitochondria. The small protein encoded by this gene plays a role in the biogenesis of mitochondrial co
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all(8)
GO ID Ontology Definition Evidence Reference
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IEA
GO:0005743 Component Mitochondrial inner membrane IBA
GO:0005743 Component Mitochondrial inner membrane IEA
GO:0016020 Component Membrane IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
614770 40038 ENSG00000229833
Protein
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID P0DJ07
Protein name Protein PET100 homolog, mitochondrial
Protein function Plays an essential role in mitochondrial complex IV maturation and assembly.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF09803 Pet100 1 → 69 Pet100 Family
Sequence
Sequence length 73
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (4)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Cytochrome-C Oxidase Deficiency cytochrome-c oxidase deficiency disease N/A N/A GenCC
Leigh Syndrome Leigh syndrome N/A N/A GenCC
Leigh Syndrome With Leukodystrophy Leigh syndrome with leukodystrophy N/A N/A GenCC
Mitochondrial Complex Deficiency mitochondrial complex 4 deficiency, nuclear type 12 N/A N/A GenCC
Show/Hide Text Mining Associations (3)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Acidosis Lactic Associate 25293719
Cytochrome c Oxidase Deficiency Associate 24462369, 25293719
Leigh Disease Associate 24462369, 25293719