1. Gene
  2. PET117 - PET117 cytochrome c oxidase chaperone Gene

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

Orthologs Information

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