PET100 Cytochrome c Oxidase Chaperone

Alternative Names

PET100
PET100, S. Cerevisiae, Homolog of
Chromosome 19 Open Reading Frame 79 C19ORF79

Length

2,172 bases

No. of Exons

No. of isoforms

Protein Name

Protein PET100 Homolog, Mitochondrial

Molecular Mass

9114 Da

Amino Acid Count

Genomic Location

chr19:7,629,792-7,631,955

Gene Map Locus

19p13.2

Description

Mitochondrial complex IV, or cytochrome c oxidase, is a large transmembrane protein complex that is part of the respiratory electron transport chain of mitochondria. The small protein encoded by this gene plays a role in the biogenesis of mitochondrial complex IV. [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_001171155.2:c.3G>C	Lebanon	chr19:7629836	Pathogenic	Likely Pathogenic, Pathogenic	Mitochondrial Complex IV Deficiency, Nuclear Type 12	NG_034117.1:g.5052G>C; NM_001171155.2:c.3G>C; NP_001164626.1:p.Met1Ile	587777839	125441

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External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=PET100

Contributors

Asha Deepthi: 18.11.2020
Pratibha Nair: 27.10.2020
Sayeeda Hana: 27.04.2020

Edit History

Asha Deepthi: 18.11.2020
Pratibha Nair: 27.10.2020
Sayeeda Hana: 27.04.2020

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