CHCHD7 - coiled-coil-helix-coiled-coil-helix domain containing 7 Gene

Homo sapiens

Also known as COX23

Gene ID: 79145 | Gene type: protein coding

About CHCHD7

Cytogenetic location: 8q12.1 Genomic coordinates (GRCh38): 8:56,211,789-56,218,809 (from NCBI)

This gene has 18 transcripts (splice variants), 179 orthologues and is associated with 38 phenotypes. Ubiquitous expression in ovary (RPKM 12.4), kidney (RPKM 11.5) and 25 other tissues.

Summary

Predicted to be located in mitochondrial intermembrane space. [provided by Alliance of Genome Resources, Apr 2022]

CHCHD7 Products(8)

mRNA	Protein	Name
NM_001011667.3	NP_001011667.1	coiled-coil-helix-coiled-coil-helix domain-containing protein 7 isoform a
NM_001011668.3	NP_001011668.1	coiled-coil-helix-coiled-coil-helix domain-containing protein 7 isoform b
NM_001011669.3	NP_001011669.1	coiled-coil-helix-coiled-coil-helix domain-containing protein 7 isoform c
NM_001011670.3	NP_001011670.1	coiled-coil-helix-coiled-coil-helix domain-containing protein 7 isoform e
NM_001011671.3	NP_001011671.1	coiled-coil-helix-coiled-coil-helix domain-containing protein 7 isoform f
NM_001317858.2	NP_001304787.1	coiled-coil-helix-coiled-coil-helix domain-containing protein 7 isoform c
NM_001317859.2	NP_001304788.1	coiled-coil-helix-coiled-coil-helix domain-containing protein 7 isoform g
NM_024300.5	NP_077276.2	coiled-coil-helix-coiled-coil-helix domain-containing protein 7 isoform d

Protein Preferred Names

Protein Names

coiled-coil-helix-coiled-coil-helix domain-containing protein 7

COX23 cytochrome c oxidase assembly homolog

Related Diseases

Diseases

Alias

Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation

Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	COB1
Coloboma-Microphthalmos Syndrome	Coloboma-Microphthalmos Syndrome Associated With Sensorineural Hearing Loss, Hematuria, And Cleft Lip/Palate
Coloboma, Cleft Lip-Palate And Mental Retardation Syndrome	Ocular Coloboma With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Uveal Coloboma-Cleft Lip/Palate-Mental Retardation Syndrome	Uveal Coloboma-Cleft Lip/Palate-Intellectual Disability Syndrome
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Intellectual Disability	Coloboma, Ocular, With/Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation

Pleomorphic Adenoma Carcinoma

Carcinoma Ex Pleomorphic Adenoma

Carcinoma In Pleomorphic Adenoma

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-RS02604	CHCHD7 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	CHCHD7	VGNC	VGNC:81640
Macaca mulatta	CHCHD7	VGNC	VGNC:83989
Rattus norvegicus	CHCHD7	RGD	RGD:1592689
Mus musculus	CHCHD7	MGD	MGI:1913683
Canis familiaris	CHCHD7	VGNC	VGNC:39198
Bos taurus	CHCHD7	VGNC	VGNC:27275

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