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PET117 - PET117 cytochrome c oxidase chaperone Gene

Also Known as CSRP2BP; MC4DN19

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 100303755

About PET117

Cytogenetic location: 20p11.23 Genomic coordinates (GRCh38): 20:18,137,863-18,143,169 (from NCBI)

This gene has 1 transcript (splice variant), 102 orthologues and is associated with 2 phenotypes. Ubiquitous expression in duodenum (RPKM 11.7), stomach (RPKM 11.1) and 25 other tissues.

Summary

Predicted to be involved in mitochondrial cytochrome c oxidase assembly. Located in mitochondrion. Implicated in cytochrome-c oxidase deficiency disease. [provided by Alliance of Genome Resources, Apr 2022]

PET117 Products (1)

mRNA	Protein	Name
NM_001164811.2	NP_001158283.1	protein PET117 homolog, mitochondrial precursor

Gene Ontology

Cellular Component

Cellular Component GO Annotation	Evidence	References	Source
located in mitochondrion	IDA IDA: Inferred from direct assay	22356826	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names	Protein Names
protein PET117 homolog, mitochondrial	PET117 homolog

Related Diseases

Diseases	Alias
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	MC4DN19 Mitochondrial Complex 4 Deficiency, Nuclear Type 19
Isolated Cytochrome C Oxidase Deficiency	Isolated Cox Deficiency Isolated Mitochondrial Respiratory Chain Complex Iv Deficiency
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria	2-Aminoadipic 2-Oxoadipic Aciduria Amoxad AAKAD 2-Ketoadipic Aciduria Alpha-Aminoadipic Aciduria Amino Adipic Aciduria Aciduria, 2-Aminoadipic 2-Oxoadipic
Atrophic Muscular Disease	Muscular Disorders, Atrophic
Corneal Dystrophy, Posterior Polymorphous, 1	Posterior Polymorphous Corneal Dystrophy Ppcd Maumenee Corneal Dystrophy Posterior Polymorphous Corneal Dystrophy 1 PPCD1 Corneal Dystrophy, Hereditary Polymorphous Posterior Corneal Endothelial Dystrophy 1, Autosomal Dominant Schlichting Dystrophy Ched1 Corneal Endothelial Dystrophy 1, Autosomal Dominant, Formerly Ched1, Formerly Hereditary Polymorphus Posterior Corneal Dystrophy Posterior Polymorphous Dystrophy Hereditary Polymorphous Posterior Corneal Dystrophy Dystrophy, Corneal, Posterior Polymorphous Dystrophy, Corneal, Posterior Polymorphous, Type 1 Polymorphous Corneal Dystrophy Corneal Endothelial Dystrophy 2
Brody Disease	Brody Myopathy BROD Sarcoplasmic Reticulum -Ca2+Atpase Deficiency Myopathy, Brody
Mitochondrial Complex Ii Deficiency	Isolated Mitochondrial Respiratory Chain Complex Ii Deficiency Isolated Succinate-Coenzyme Q Reductase Deficiency Isolated Succinate-Coq Reductase Deficiency Isolated Succinate-Ubiquinone Reductase Deficiency Mitochondrial Respiratory Chain Complex Ii Deficiency Complex 2 Mitochondrial Respiratory Chain Deficiency Succinate Coq Reductase Deficiency Succinate Dehydrogenase Deficiency Isolated Succinate Dehydrogenase Deficiency Succinate-Coenzyme Q Reductase Deficiency
Cardiomyopathy, Infantile Hypertrophic	Infantile Hypertrophic Cardiomyopathy CMHI
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Cytochrome C Oxidase Deficiency Mitochondrial Complex Iv Deficiency Cox Deficiency Cytochrome-C Oxidase Deficiency Disease MC1DN4 Cytochrome-C Oxidase Deficiency MC4DN1 Mitochondrial Complex I Deficiency, Nuclear Type 4 Complex 4 Mitochondrial Respiratory Chain Deficiency Complex Iv Deficiency Mitochondrial Complex 1 Deficiency, Nuclear Type 4 Nuclear Type Mitochondrial Complex I Deficiency 4 Deficiency Of Mitochondrial Respiratory Chain Complex4 MT-C4D Complex Iv Mitochondrial Respiratory Chain Deficiency Lethal Neonatal Cardiomyopathy Hypertrophic Due To Cytochrome C Oxidase Deficiency Mitochondrial Complex Iv Deficiency, Nuclear, Type 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10338	PET117 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	PET117	VGNC	VGNC:106860
Felis catus	PET117	VGNC	VGNC:81146
Mus musculus	PET117	MGD	MGI:5295678
Others	PET117	NCBI