Cytochrome C1

Alternative Names

CYC1

Length

2,493 bases

No. of Exons

No. of isoforms

Protein Name

Cytochrome c1, heme protein, mitochondrial

Molecular Mass

35422 Da

Amino Acid Count

325

Genomic Location

chr8:144,095,035-144,097,527

Gene Map Locus

8q24.3

Description

This gene encodes a subunit of the cytochrome bc1 complex, which plays an important role in the mitochondrial respiratory chain by transferring electrons from the Rieske iron-sulfur protein to cytochrome c. Mutations in this gene may cause mitochondrial complex III deficiency, nuclear type 6. [From RefSeq]

Epidemiology in the Arab World

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Lebanon

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_001916.5:c.288G>T	Lebanon	NC_000008.11:g.144095991G>T	Pathogenic	Pathogenic	Mitochondrial Complex III Deficiency, Nuclear Type 6	NG_033872.1:g.5957G>T; NM_001916.5:c.288G>T; NP_001907.3:p.Trp96Cys	587777041	66019

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External Links

https://ghr.nlm.nih.gov/gene/CYC1 https://www.genecards.org/cgi-bin/carddisp.pl?gene=CYC1 https://www.ncbi.nlm.nih.gov/gene/1537

Contributors

Pratibha Nair: 26.03.2020

Edit History

Pratibha Nair: 26.03.2020
Pratibha Nair: 03.11.2014

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