GFER

Gene name: growth factor, augmenter of liver regeneration
OMIM ID: 600924
Chromosome location: 16p13.3

Mutations

Disease/Phenotype	Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay
Reference transcript	NM_005262.2
DNA Change	c.581G>A
A.A. Change	p.Arg194His
Exon/Intron	exon 3
Mutation Type	substitution
Reference	Di Fonzo A, Ronchi D, Lodi T, Fassone E, Tigano M, Lamperti C, Corti S, Bordoni A, Fortunato F, Nizzardo M, Napoli L, Donadoni C, Salani S, Saladino F, Moggio M, Bresolin N, Ferrero I, Comi GP.The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiency. Am J Hum Genet. 2009 May;84(5):594-604.

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