PET100 (PET100 cytochrome c oxidase chaperone)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 100131801
Gene name PET100 cytochrome c oxidase chaperone
Gene symbol PET100
Synonyms (NCBI Gene)
C19orf79MC4DN12
Chromosome 19
Chromosome location 19p13.2
Summary 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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
8
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
614770 40038 ENSG00000229833
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (4)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Congenital lactic acidosis Likely pathogenic; Pathogenic rs587779779 RCV000144455
Mitochondrial complex IV deficiency, nuclear type 1 Pathogenic; Likely pathogenic rs587777839, rs587779779, rs977392512 RCV000111466
RCV000144455
RCV005419416
Mitochondrial complex IV deficiency, nuclear type 12 Pathogenic; Likely pathogenic rs587777839, rs587779779, rs977392512, rs2031257693, rs1172004393 RCV001261874
RCV000240821
RCV002250184
RCV005014825
RCV005014895
PET100-related disorder Pathogenic rs587777839 RCV004757960
Show/Hide Unknown Diseases (6)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Abnormality of the mitochondrion Conflicting classifications of pathogenicity rs1459437890 RCV003315455
Acute myeloid leukemia Likely benign rs184325854 RCV005915047
Clear cell carcinoma of kidney Likely benign rs184325854 RCV005915048
Familial cancer of breast Uncertain significance rs756326147 RCV005924265
Show/Hide Text Mining Associations (3)
Associations from Text MiningDisease 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