Complex IV assembly

No Pathway Network information available for Complex IV assembly

Pathways in the Complex IV assembly SuperPath

#	Name	Source	Genes
1	Complex IV assembly	Reactome	CMC1 COA1 COA3 COA5 COQ10A COQ10B COX11 COX14 COX15 COX16 COX17 COX18 COX19 COX20 COX4I1 COX4I2 COX5A COX5B COX6A1 COX6A2 COX6B1 COX6B2 COX6C COX7A1 COX7A2 COX7A2L COX7B COX7C COX8A COX8C COXFA4 HIGD1A HIGD2A MT-CO1 MT-CO2 MT-CO3 PET100 PET117 PNKD RAB5IF SCO1 SCO2 SMIM20 SURF1 TACO1 TIMM21 TMEM177 TMEM223 (see all 48) (see less)
2	Mitochondrial complex IV assembly	WikiPathways	CMC1 COA3 COA6 COX10 COX11 COX14 COX15 COX16 COX17 COX18 COX19 COX20 COX4I1 COX5A COX5B COX6A1 COX6B1 COX6C COX7A2 COX7B COX7C COX8A COXFA4 HIGD1A PET100 PET117 PNKD SMIM20 SURF1 TACO1 TMEM177 (see all 31) (see less)

Ordered by rank within the SuperPath, via the multiplicity of each gene in the constituent pathways

#	Symbol	Description	Category	# Related Pathways
1	PET100	PET100 Cytochrome C Oxidase Chaperone	Protein Coding	2
2	PET117	PET117 Cytochrome C Oxidase Chaperone	Protein Coding	2
3	COX17	Cytochrome C Oxidase Copper Chaperone COX17	Protein Coding	2
4	COX20	Cytochrome C Oxidase Assembly Factor COX20	Protein Coding	2
5	COX4I1	Cytochrome C Oxidase Subunit 4I1	Protein Coding	2
6	COX5B	Cytochrome C Oxidase Subunit 5B	Protein Coding	2
7	COX6A1	Cytochrome C Oxidase Subunit 6A1	Protein Coding	2
8	COX6B1	Cytochrome C Oxidase Subunit 6B1	Protein Coding	2
9	COX6C	Cytochrome C Oxidase Subunit 6C	Protein Coding	2
10	COX7A2	Cytochrome C Oxidase Subunit 7A2	Protein Coding	2
11	COX7B	Cytochrome C Oxidase Subunit 7B	Protein Coding	2
12	COX7C	Cytochrome C Oxidase Subunit 7C	Protein Coding	2
13	COX8A	Cytochrome C Oxidase Subunit 8A	Protein Coding	2
14	COX11	Cytochrome C Oxidase Copper Chaperone COX11	Protein Coding	2
15	COX15	Cytochrome C Oxidase Assembly Factor COX15	Protein Coding	2
16	CMC1	C-X9-C Motif Containing 1	Protein Coding	2
17	PNKD	PNKD Metallo-Beta-Lactamase Domain Containing	Protein Coding	2
18	HIGD1A	HIG1 Hypoxia Inducible Domain Family Member 1A	Protein Coding	2
19	COX18	Cytochrome C Oxidase Assembly Factor COX18	Protein Coding	2
20	COA3	Cytochrome C Oxidase Assembly Factor 3	Protein Coding	2
21	SMIM20	Small Integral Membrane Protein 20	Protein Coding	2
22	COXFA4	Cytochrome C Oxidase Associated Subunit FA4	Protein Coding	2
23	TACO1	Translational Activator Of Cytochrome C Oxidase I	Protein Coding	2
24	COX16	Cytochrome C Oxidase Assembly Factor COX16	Protein Coding	2
25	SURF1	SURF1 Cytochrome C Oxidase Assembly Factor	Protein Coding	2
26	TMEM177	Transmembrane Protein 177	Protein Coding	2
27	COX14	Cytochrome C Oxidase Assembly Factor COX14	Protein Coding	2
28	COX19	Cytochrome C Oxidase Assembly Factor COX19	Protein Coding	2
29	COX5A	Cytochrome C Oxidase Subunit 5A	Protein Coding	2
30	COX6B2	Cytochrome C Oxidase Subunit 6B2	Protein Coding	1
31	COX6A2	Cytochrome C Oxidase Subunit 6A2	Protein Coding	1
32	COX7A1	Cytochrome C Oxidase Subunit 7A1	Protein Coding	1
33	HIGD2A	HIG1 Hypoxia Inducible Domain Family Member 2A	Protein Coding	1
34	TIMM21	Translocase Of Inner Mitochondrial Membrane 21	Protein Coding	1
35	COX8C	Cytochrome C Oxidase Subunit 8C	Protein Coding	1
36	MT-CO1	Mitochondrially Encoded Cytochrome C Oxidase I	Protein Coding	1
37	MT-CO2	Mitochondrially Encoded Cytochrome C Oxidase II	Protein Coding	1
38	MT-CO3	Mitochondrially Encoded Cytochrome C Oxidase III	Protein Coding	1
39	COA5	Cytochrome C Oxidase Assembly Factor 5	Protein Coding	1
40	COA1	Cytochrome C Oxidase Assembly Factor 1	Protein Coding	1
41	RAB5IF	RAB5 Interacting Factor	Protein Coding	1
42	SCO1	Synthesis Of Cytochrome C Oxidase 1	Protein Coding	1
43	TMEM223	Transmembrane Protein 223	Protein Coding	1
44	COQ10B	Coenzyme Q10B	Protein Coding	1
45	COX4I2	Cytochrome C Oxidase Subunit 4I2	Protein Coding	1
46	COX7A2L	Cytochrome C Oxidase Subunit 7A2 Like	Protein Coding	1
47	COQ10A	Coenzyme Q10A	Protein Coding	1
48	SCO2	Synthesis Of Cytochrome C Oxidase 2	Protein Coding	1
49	COA6	Cytochrome C Oxidase Assembly Factor 6	Protein Coding	1
50	COX10	Cytochrome C Oxidase Assembly Factor Heme A:Farnesyltransferase COX10	Protein Coding	1

Disorders associated with Complex IV assembly SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Cox deficiency, benign infantile mitochondrial myopathy	Enrichment	COA3, COX14, COX16, COX20, COX4I1, COX5A, COX6A2, COX6B1, COX8A, MT-CO1, MT-CO2, MT-CO3, PET117	16.00
2	Mitochondrial complex iv deficiency, nuclear type 1	Enrichment	COA3, COX10, COX4I1, COX6B1, COX8A, PET100, SURF1, TACO1	11.18
3	Cox deficiency, infantile mitochondrial myopathy	Enrichment	COA5, COX15, SCO1, SCO2	9.16
4	Mitochondrial myopathy, infantile, transient	Enrichment	MT-CO1, MT-CO2, MT-CO3	5.46
5	Leigh syndrome, nuclear	Enrichment	COX15, MT-CO1, MT-CO2, MT-CO3, SURF1	5.37
6	Mitochondrial myopathy with reversible cytochrome c oxidase deficiency	Enrichment	MT-CO1, MT-CO2, MT-CO3	5.31
7	Mitochondrial complex iv deficiency, nuclear type 6	Enrichment	COX15, SURF1	5.30
8	Leigh disease	Enrichment	COX15, MT-CO1, MT-CO2, MT-CO3, SURF1	5.16
9	Hypertelorism	Enrichment	MT-CO1, MT-CO2, MT-CO3, RAB5IF	4.48
10	Hereditary recurrent myoglobinuria	Enrichment	MT-CO1, MT-CO3	4.14
11	Tetralogy of fallot	Enrichment	MT-CO1, MT-CO2, MT-CO3	3.99
12	Mitochondrial complex v deficiency, mitochondrial type 1	Enrichment	MT-CO1, MT-CO2, MT-CO3	3.99
13	Neuropathy, ataxia, and retinitis pigmentosa	Enrichment	MT-CO1, MT-CO2, MT-CO3	3.99
14	Striatonigral degeneration, infantile, mitochondrial	Enrichment	MT-CO1, MT-CO2, MT-CO3	3.99
15	Camptodactyly of fingers	Enrichment	MT-CO1, MT-CO2, MT-CO3	3.99
16	Mitochondrial disease	Enrichment	MT-CO1, MT-CO2, MT-CO3, SURF1	3.61
17	Leber hereditary optic neuropathy, modifier of	Enrichment	MT-CO1, MT-CO2, MT-CO3	3.53
18	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	Enrichment	MT-CO1, MT-CO2, MT-CO3	3.49
19	Familial colorectal cancer	Enrichment	MT-CO1, MT-CO2	3.27
20	Linear skin defects with multiple congenital anomalies 2	Enrichment	COX7B	2.64
21	Mitochondrial complex iv deficiency, nuclear type 8	Enrichment	TACO1	2.64
22	Mitochondrial complex iv deficiency, nuclear type 10	Enrichment	COX14	2.64
23	Mitochondrial complex iv deficiency, nuclear type 14	Enrichment	COA3	2.64
24	Mitochondrial complex iv deficiency, nuclear type 23	Enrichment	COX11	2.64
25	Mitochondrial complex iv deficiency, nuclear type 13	Enrichment	COA6	2.64
26	Mitochondrial complex iv deficiency, nuclear type 7	Enrichment	COX6B1	2.64
27	Mitochondrial complex iv deficiency, nuclear type 20	Enrichment	COX5A	2.64
28	Mitochondrial complex iv deficiency, nuclear type 16	Enrichment	COX4I1	2.64
29	Mitochondrial complex iv deficiency, nuclear type 21	Enrichment	COXFA4	2.64
30	Mitochondrial complex iv deficiency, nuclear type 15	Enrichment	COX8A	2.64
31	Charcot-marie-tooth disease, recessive intermediate d	Enrichment	COX6A1	2.64
32	Myoglobinuria, recurrent	Enrichment	MT-CO1	2.45
33	Mitochondrial complex iv deficiency, nuclear type 18	Enrichment	COX6A2	2.45
34	Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis	Enrichment	COX4I2	2.45
35	Mitochondrial complex iv deficiency, nuclear type 9	Enrichment	COA5	2.45
36	Autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect	Enrichment	SCO2	2.45
37	Pancreatic insufficiency-anemia-hyperostosis syndrome	Enrichment	COX4I2	2.45
38	Autosomal dominant spastic ataxia	Enrichment	MT-CO3	2.45
39	Mitochondrial complex iv deficiency, nuclear type 19	Enrichment	PET117	2.34
40	Charcot-marie-tooth disease type 4k	Enrichment	SURF1	2.34
41	Mitochondrial complex iv deficiency, nuclear type 11	Enrichment	COX20	2.34
42	Mitochondrial complex iv deficiency, nuclear type 12	Enrichment	PET100	2.34
43	Charcot-marie-tooth disease, demyelinating, type 4k	Enrichment	SURF1	2.34
44	Mitochondrial complex iv deficiency, nuclear type 22	Enrichment	COX16	2.34
45	Paroxysmal dyskinesia	Enrichment	PNKD	2.34
46	Leber plus disease	Enrichment	MT-CO1, MT-CO2, MT-CO3	2.34
47	Linear skin defects with multiple congenital anomalies 1	Enrichment	COX7B	2.16
48	Myopia 6	Enrichment	SCO2	2.15
49	Mitochondrial complex iv deficiency, nuclear type 4	Enrichment	SCO1	2.15
50	Paroxysmal nonkinesigenic dyskinesia 1	Enrichment	PNKD	2.04
51	Familial paroxysmal nonkinesigenic dyskinesia	Enrichment	PNKD	2.04
52	Keratoderma, palmoplantar, with deafness	Enrichment	MT-CO1	1.98
53	Mitochondrial complex iv deficiency, nuclear type 2	Enrichment	SCO2	1.98
54	Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2	Enrichment	RAB5IF	1.98
55	Myelodysplastic syndrome with ring sideroblasts	Enrichment	MT-CO1	1.98
56	Mitochondrial complex iii deficiency, nuclear type 4	Enrichment	COX10	1.94
57	Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1	Enrichment	RAB5IF	1.85
58	Paroxysmal dystonia	Enrichment	PNKD	1.80
59	Rare isolated myopia	Enrichment	SCO2	1.76
60	Deafness, nonsyndromic sensorineural, mitochondrial	Enrichment	MT-CO1	1.68
61	Mitochondrial dna depletion syndrome 1	Enrichment	SCO2	1.68
62	Mitochondrial dna depletion syndrome 4b	Enrichment	SCO2	1.55
63	Mitochondrial neurogastrointestinal encephalomyopathy	Enrichment	SCO2	1.50
64	Rare mitochondrial non-syndromic sensorineural deafness	Enrichment	MT-CO1	1.46
65	Retinitis pigmentosa	Enrichment	MT-CO1, MT-CO2, MT-CO3	1.41
66	Peripheral nervous system disease	Enrichment	COX6A1	1.15
67	Neuropathy	Enrichment	COX6A1	1.15
68	Scoliosis	Enrichment	RAB5IF	1.09
69	Epilepsy	Enrichment	MT-CO3	0.88
70	Dilated cardiomyopathy	Enrichment	SCO2	0.61
71	Colorectal cancer	Enrichment	MT-CO1	0.57

¹ WikiPathways

² PubChem

³ R&D Systems

⁴ Reactome

⁵ GeneGo (Thomson Reuters)

⁶ QIAGEN

⁷ PharmGKB

⁸ Cell Signaling Technology

⁹ Sino Biological

¹⁰ Tocris

¹¹ MalaCards

Complex IV assembly

Pathway Network for Complex IV assembly

Member Pathways for Complex IV assembly

Pathways in the Complex IV assembly SuperPath

Associated Genes for Complex IV assembly

Associated Disorders for Complex IV assembly

Disorders associated with Complex IV assembly SuperPath

STRING Interaction Network for Complex IV assembly

Sources for Complex IV assembly