Mitochondrial Elongation Factor G1

Alternative Names

GFM1
Elongation Factor G1
EFG
EFG1
GFM

Length

48,298 bases

No. of Exons

No. of isoforms

Protein Name

Elongation factor G, mitochondrial

Molecular Mass

83471 Da

Amino Acid Count

751

Genomic Location

chr3:158,644,278-158,692,575

Gene Map Locus

3q25.32

Description

The GFM1 gene is a nuclear gene that codes for a mitochondrial translation elongation factor G1. This protein plays a vital role in the translation of mitochondrial proteins.

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_024996.5:c.521A>G	Lebanon	Chr3:158646896	Likely Pathogenic	Pathogenic	Combined Oxidative Phosphorylation Deficiency 1	NG_008441.1:g.7369A>G ; NM_024996.5:c.521A>G; NP_079272.4:p.Asn174Ser	119470018	4160

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External Links

https://ghr.nlm.nih.gov/gene/GFM1 https://www.genecards.org/cgi-bin/carddisp.pl?gene=GFM1

Contributors

Pratibha Nair: 28.01.2019

Edit History

Pratibha Nair: 28.01.2019

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