1. Gene
  2. CHCHD7 - coiled-coil-helix-coiled-coil-helix domain containing 7 Gene

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

中文名称:含卷曲-卷曲-螺旋-卷曲-卷曲-螺旋结构域 7

种属: Homo sapiens

同用名: COX23

基因 ID: 79145 | 基因类型: protein coding

关于 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.

功能概要

预测位于线粒体膜间隙。 [由基因组资源联盟提供,2022 年 4 月]

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

CHCHD7 基因产物(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
蛋白主名 其他名称

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

COX23 cytochrome c oxidase assembly homolog

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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