COX7B information

COX7B
Identifiers
Aliases	COX7B, APLCC, LSDMCA2, cytochrome c oxidase subunit 7B
External IDs	OMIM: 300885; MGI: 1913392; HomoloGene: 1406; GeneCards: COX7B; OMA:COX7B - orthologs
Gene location (Human)
Chr.	X chromosome (human)
End	77,907,376 bp
Gene location (Mouse)
Chr.	X chromosome (mouse)
End	105,066,056 bp
RNA expression pattern
	Top expressed in
	right ventricle; ; apex of heart; ; body of tongue; ; biceps brachii; ; muscle of thigh; ; Skeletal muscle tissue of biceps brachii; ; thoracic diaphragm; ; mucosa of sigmoid colon; ; right auricle; ; renal medulla;
	Top expressed in
	interventricular septum; ; left ventricle; ; myocardium of ventricle; ; cardiac muscles; ; cardiac muscle tissue of left ventricle; ; yolk sac; ; thoracic diaphragm; ; quadriceps femoris muscle; ; skeletal muscle tissue; ; right kidney;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	cytochrome-c oxidase activity;
Cellular component	integral component of membrane; mitochondrial inner membrane; respiratory chain complex IV; membrane; mitochondrion; mitochondrial respirasome;
Biological process	central nervous system development; proton transmembrane transport; electron transport chain; mitochondrial electron transport, cytochrome c to oxygen;
	Sources:Amigo / QuickGO
Orthologs
	1349
	66142
	ENSG00000131174
	ENSMUSG00000031231
	P24311
	P56393
	NM_001866
	NM_025379
	NP_001857
	NP_079655
	Wikidata
View/Edit Human	View/Edit Mouse

Cytochrome c oxidase subunit 7B, mitochondrial (COX7B) is an enzyme that in humans is encoded by the COX7B gene.^[5] COX7B is a nuclear-encoded subunit of cytochrome c oxidase (COX). Cytochrome c oxidase (complex IV) is a multi-subunit enzyme complex that couples the transfer of electrons from cytochrome c to molecular oxygen and contributes to a proton electrochemical gradient across the inner mitochondrial membrane, acting as the terminal enzyme of the mitochondrial respiratory chain.^[6] Work with Oryzias latices has linked disruptions in COX7B with microphthalmia with linear skin lesions (MLS), microcephaly, and mitochondrial disease. Clinically, mutations in COX7B have been associated with linear skin defects with multiple congenital anomalies.^[7]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000131174 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000031231 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Sadlock JE, Lightowlers RN, Capaldi RA, Schon EA (February 1993). "Isolation of a cDNA specifying subunit VIIb of human cytochrome c oxidase". Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression. 1172 (1–2): 223–5. doi:10.1016/0167-4781(93)90301-s. PMID 8382530.
^ "Entrez Gene: COX7B cytochrome c oxidase subunit VIIb". This article incorporates text from this source, which is in the public domain.
^ Indrieri A, van Rahden VA, Tiranti V, Morleo M, Iaconis D, Tammaro R, D'Amato I, Conte I, Maystadt I, Demuth S, Zvulunov A, Kutsche K, Zeviani M, Franco B (November 2012). "Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease". American Journal of Human Genetics. 91 (5): 942–9. doi:10.1016/j.ajhg.2012.09.016. PMC 3487127. PMID 23122588.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000131174 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000031231 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid8382530-5] Sadlock JE, Lightowlers RN, Capaldi RA, Schon EA (February 1993). "Isolation of a cDNA specifying subunit VIIb of human cytochrome c oxidase". Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression. 1172 (1–2): 223–5. doi:10.1016/0167-4781(93)90301-s. PMID 8382530.

[entrez-6] "Entrez Gene: COX7B cytochrome c oxidase subunit VIIb". This article incorporates text from this source, which is in the public domain.

[:0-7] Indrieri A, van Rahden VA, Tiranti V, Morleo M, Iaconis D, Tammaro R, D'Amato I, Conte I, Maystadt I, Demuth S, Zvulunov A, Kutsche K, Zeviani M, Franco B (November 2012). "Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease". American Journal of Human Genetics. 91 (5): 942–9. doi:10.1016/j.ajhg.2012.09.016. PMC 3487127. PMID 23122588.

COX7B information

and 4 Related for: COX7B information

COX7B

Microphthalmia

Cytochrome c oxidase

Syndromic microphthalmia