COA8 - cytochrome c oxidase assembly factor 8 Gene

Homo sapiens

Also known as APOP; APOP1; APOPT1; MC4DN17; C14orf153

Gene ID: 84334 | Gene type: protein coding

About COA8

Cytogenetic location: 14q32.33 Genomic coordinates (GRCh38): 14:103,562,960-103,590,899 (from NCBI)

This gene has 17 transcripts (splice variants), 180 orthologues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 10.4), fat (RPKM 5.7) and 25 other tissues.

Summary

This gene encodes a protein that localizes to the mitochondria, where it stimulates the release of cytochrome c, thereby promoting programmed cell death. Mutations in this gene have been found in individuals with mitochondrial complex IV deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]

COA8 Products(4)

mRNA	Protein	Name
NM_001302652.2	NP_001289581.2	cytochrome c oxidase assembly factor 8 isoform 2
NM_001302653.2	NP_001289582.2	cytochrome c oxidase assembly factor 8 isoform 3
NM_001302654.2	NP_001289583.2	cytochrome c oxidase assembly factor 8 isoform 4
NM_001370595.2	NP_001357524.1	cytochrome c oxidase assembly factor 8 isoform 1

COA8 Protein Structure

DUF2315

0
100
206 a.a.

Protein Preferred Names

Protein Names

cytochrome c oxidase assembly factor 8

UPF0671 protein C14orf153

Related Diseases

Diseases

Alias

Mitochondrial Complex Iv Deficiency, Nuclear Type 17

MC4DN17

Mitochondrial Complex 4 Deficiency, Nuclear Type 17

Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy

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

Charcot-Marie-Tooth Disease, Type 4k

Charcot-Marie-Tooth Disease Type 4k	CMT4K
Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4k	Charcot-Marie-Tooth Neuropathy, Demyelinating, Autosomal Recessive, Type 4k
Surf1-Related Charcot-Marie-Tooth Disease Type 4	Surf1-Related Cmt4
Surf1-Related Severe Demyelinating Charcot-Marie-Tooth Disease	Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4k
Autosomal Recessive Demyelinating Charcot-Marie-Tooth Neuropathy Type 4k	Charcot-Marie-Tooth Disease 4k
Charcot-Marie-Tooth Disease, Demyelinating, Type 4k	Charcot-Marie-Tooth Neuropathy, Type 4k

Charcot-Marie-Tooth Disease, Axonal, Type 2ee

CMT2EE	Charcot-Marie-Tooth Neuropathy, Type 2ee
Charcot-Marie-Tooth Disease Type 2ee	Charcot-Marie-Tooth Disease, Axonal, 2ee

Leukodystrophy

Leukodystrophies

Human Monocytic Ehrlichiosis

Ehrlichiosis Chafeensis	Hme
Human Ehrlichial Infection, Human Monocytic Type

Fatal Infantile Cardioencephalomyopathy Due To Cytochrome C Oxidase Deficiency

Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency	Fatal Infantile Cox Deficiency
Fatal Infantile Cytochrome C Oxidase Deficiency	Fatal Infantile Encephalocardiomyopathy

L-2-Hydroxyglutaric Aciduria

L-2-Hydroxyglutaric Acidemia	L2HGA
L-2-Hga	Aciduria, L-2-Hydroxyglutaric
Combined D-2- And L-2-Hydroxyglutaric Aciduria

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-RS02945	COA8 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	COA8	RGD	RGD:1304719
Felis catus	COA8	VGNC	VGNC:81014
Mus musculus	COA8	MGD	MGI:1915270
Canis familiaris	COA8	VGNC	VGNC:53488
Bos taurus	COA8	VGNC	VGNC:26037

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