SERAC1 Chromosome 6
Serine active site containing 1
Upload your DNA to see your personal genotypes for variants in SERAC1.
What This Gene Does
The protein encoded by this gene is a phosphatidylglycerol remodeling protein found at the interface of mitochondria and endoplasmic reticula, where it mediates phospholipid exchange. The encoded protein plays a major role in mitochondrial function and intracellular cholesterol trafficking. Defects in this gene are a cause of 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL). Two transcript variants, one protein-coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Aug 2012]
Gene Info
Gene Group
Armadillo like helical domain containing
Locus Type
gene with protein product
Location
6q25.3
Ensembl
ENSG00000122335
Associated Conditions (8)
3-methylglutaconic aciduria with deafness
encephalopathy
and Leigh-like syndrome
Inborn genetic diseases
SERAC1-related disorder
Ovarian serous cystadenocarcinoma
Mitochondrial oxidative phosphorylation disorder
SERAC1-related neurological disorder
Key Variants
RS114741005
Conflicting classifications of pathogenicity
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
Health Risk
RS147085187
Conflicting classifications of pathogenicity
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
Health Risk
RS149034301
Conflicting classifications of pathogenicity
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
Health Risk
RS201367107
Conflicting classifications of pathogenicity
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
Health Risk
RS372001660
Conflicting classifications of pathogenicity
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
Health Risk
RS375757326
Conflicting classifications of pathogenicity
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
Health Risk
RS536508664
Conflicting classifications of pathogenicity
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
Health Risk
RS543967244
Conflicting classifications of pathogenicity
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
Health Risk
RS549677025
Conflicting classifications of pathogenicity
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
Health Risk
RS748641688
Conflicting classifications of pathogenicity
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
Health Risk
RS754630732
Conflicting classifications of pathogenicity
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
Health Risk
RS768913919
Conflicting classifications of pathogenicity
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
Health Risk
All Variants (61)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS886041750 | Health Risk | Pathogenic | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
| RS927446955 | Health Risk | Pathogenic | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
| RS978448154 | Health Risk | Pathogenic | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
| RS1220930025 | Health Risk | Pathogenic/Likely pathogenic | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
| RS1554260851 | Health Risk | Pathogenic/Likely pathogenic | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
| RS1785136807 | Health Risk | Pathogenic/Likely pathogenic | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
| RS201941476 | Health Risk | Pathogenic/Likely pathogenic | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
| RS529232938 | Health Risk | Pathogenic/Likely pathogenic | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
| RS761964407 | Health Risk | Pathogenic/Likely pathogenic | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
| RS772296795 | Health Risk | Pathogenic/Likely pathogenic | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
| RS797045105 | Health Risk | Pathogenic/Likely pathogenic | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |