LYRM7 Chromosome 5
LYR motif containing 7
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What This Gene Does
Inner mitochondrial membrane complex III (CIII) is the main enzyme complex in the mitochondrial respiratory chain, and Rieske Fe-S protein (UQCRFS1) is the last catalytic subunit added to the complex. The protein encoded by this gene is a nuclear-encoded mitochondrial matrix protein that stabilizes UQCRFS1 and chaperones it to the CIII complex. Defects in this gene are a cause of mitochondrial complex III deficiency, nuclear type 8. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]
Gene Info
Gene Group
"LYR motif containing|Mitochondrial respiratory chain complex assembly factors"
Locus Type
gene with protein product
Location
5q23.3-q31.1
Ensembl
ENSG00000186687
Associated Conditions (2)
Mitochondrial complex III deficiency nuclear type 8
Mitochondrial complex III deficiency nuclear type 1
Key Variants
RS2149661882
Likely pathogenic
Health Risk
RS2479641491
Likely pathogenic
Mitochondrial complex III deficiency nuclear type 8, Mitochondrial complex III deficiency nuclear type 8
Health Risk
RS869025604
Likely pathogenic
Mitochondrial complex III deficiency nuclear type 8, Mitochondrial complex III deficiency nuclear type 8, Mitochondrial complex III deficiency nuclear type 8
Health Risk
RS1371841991
Pathogenic
Mitochondrial complex III deficiency nuclear type 1, Mitochondrial complex III deficiency nuclear type 1
Health Risk
RS1755666734
Pathogenic
Health Risk
RS587777433
Pathogenic
Mitochondrial complex III deficiency nuclear type 8, Mitochondrial complex III deficiency nuclear type 8
Health Risk
RS869025602
Pathogenic
Mitochondrial complex III deficiency nuclear type 8, Mitochondrial complex III deficiency nuclear type 8
Health Risk
RS869025603
Pathogenic
Mitochondrial complex III deficiency nuclear type 8, Mitochondrial complex III deficiency nuclear type 8
Health Risk
RS869025605
Pathogenic
Mitochondrial complex III deficiency nuclear type 8, Mitochondrial complex III deficiency nuclear type 8
Health Risk
RS531275086
Pathogenic/Likely pathogenic
Mitochondrial complex III deficiency nuclear type 8, Mitochondrial complex III deficiency nuclear type 8
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2149661882 | Health Risk | Likely pathogenic | — |
| RS2479641491 | Health Risk | Likely pathogenic | Mitochondrial complex III deficiency nuclear type 8, Mitochondrial complex III deficiency nuclear type 8 |
| RS869025604 | Health Risk | Likely pathogenic | Mitochondrial complex III deficiency nuclear type 8, Mitochondrial complex III deficiency nuclear type 8, Mitochondrial complex III deficiency nuclear type 8 |
| RS1371841991 | Health Risk | Pathogenic | Mitochondrial complex III deficiency nuclear type 1, Mitochondrial complex III deficiency nuclear type 1 |
| RS1755666734 | Health Risk | Pathogenic | — |
| RS587777433 | Health Risk | Pathogenic | Mitochondrial complex III deficiency nuclear type 8, Mitochondrial complex III deficiency nuclear type 8 |
| RS869025602 | Health Risk | Pathogenic | Mitochondrial complex III deficiency nuclear type 8, Mitochondrial complex III deficiency nuclear type 8 |
| RS869025603 | Health Risk | Pathogenic | Mitochondrial complex III deficiency nuclear type 8, Mitochondrial complex III deficiency nuclear type 8 |
| RS869025605 | Health Risk | Pathogenic | Mitochondrial complex III deficiency nuclear type 8, Mitochondrial complex III deficiency nuclear type 8 |
| RS531275086 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial complex III deficiency nuclear type 8, Mitochondrial complex III deficiency nuclear type 8 |