YME1L1 Chromosome 10
YME1 like 1 ATPase
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What This Gene Does
The protein encoded by this gene is the human ortholog of yeast mitochondrial AAA metalloprotease, Yme1p. It is localized in the mitochondria and can functionally complement a yme1 disruptant yeast strain. It is proposed that this gene plays a role in mitochondrial protein metabolism and could be involved in mitochondrial pathologies. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
Gene Info
Gene Group
AAA ATPases
Locus Type
gene with protein product
Location
10p12.1
Ensembl
ENSG00000136758
Associated Conditions (1)
Optic atrophy 11
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1057519312 | Health Risk | Pathogenic | Optic atrophy 11, Optic atrophy 11 |