MIEF1 Chromosome 22

Mitochondrial elongation factor 1

2 variants 2 Health Risk

Upload your DNA to see your personal genotypes for variants in MIEF1.

What This Gene Does

Enables identical protein binding activity; mitochondrial large ribosomal subunit binding activity; and purine ribonucleotide binding activity. Involved in several processes, including mitochondrial large ribosomal subunit assembly; mitochondrion organization; and regulation of mitochondrion organization. Located in mitochondrial matrix and mitochondrial outer membrane. Implicated in optic atrophy. [provided by Alliance of Genome Resources, Jul 2025]

Associated Conditions (1)

Optic atrophy 14

Key Variants

RS1930490416

Pathogenic

Optic atrophy 14, Optic atrophy 14

Health Risk

RS778124994

Pathogenic

Optic atrophy 14, Optic atrophy 14

Health Risk

All Variants (2)

RSID	Category	Clinical Significance	Conditions
RS1930490416	Health Risk	Pathogenic	Optic atrophy 14, Optic atrophy 14
RS778124994	Health Risk	Pathogenic	Optic atrophy 14, Optic atrophy 14