PET117 - PET117 cytochrome c oxidase chaperone Gene

Homo sapiens

Also known as CSRP2BP; MC4DN19

Gene ID: 100303755 | Gene type: protein coding

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

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

Bioactive Molecules (1)

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

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