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

Also Known as COX23

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 79145

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

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS02604 CHCHD7 Human Pre-designed siRNA Set A Pre-designed Set / 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
Others CHCHD7 NCBI