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 |
|---|---|---|---|
| RS114741005 | Health Risk | Conflicting classifications of pathogenicity | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
| RS147085187 | Health Risk | Conflicting classifications of pathogenicity | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
| RS149034301 | Health Risk | Conflicting classifications of pathogenicity | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
| RS201367107 | Health Risk | Conflicting classifications of pathogenicity | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
| RS372001660 | Health Risk | Conflicting classifications of pathogenicity | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
| RS375757326 | Health Risk | Conflicting classifications of pathogenicity | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
| RS536508664 | Health Risk | Conflicting classifications of pathogenicity | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
| RS543967244 | Health Risk | Conflicting classifications of pathogenicity | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
| RS549677025 | Health Risk | Conflicting classifications of pathogenicity | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
| RS748641688 | Health Risk | Conflicting classifications of pathogenicity | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
| RS754630732 | Health Risk | Conflicting classifications of pathogenicity | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
| RS768913919 | Health Risk | Conflicting classifications of pathogenicity | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
| RS770661156 | Health Risk | Conflicting classifications of pathogenicity | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
| RS1057524000 | Health Risk | Likely pathogenic | — |
| RS1245168537 | Health Risk | Likely pathogenic | SERAC1-related disorder, SERAC1-related disorder |
| RS1274076957 | Health Risk | Likely pathogenic | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
| RS139301835 | Health Risk | Likely pathogenic | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
| RS1554261245 | Health Risk | Likely pathogenic | — |
| RS1554265452 | Health Risk | Likely pathogenic | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
| RS1583555500 | Health Risk | Likely pathogenic | — |
| RS1583589537 | Health Risk | Likely pathogenic | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
| RS2128410576 | Health Risk | Likely pathogenic | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
| RS2483462219 | Health Risk | Likely pathogenic | SERAC1-related neurological disorder, SERAC1-related neurological disorder |
| RS2483477529 | Health Risk | Likely pathogenic | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
| RS779302645 | Health Risk | Likely pathogenic | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
| RS780783562 | Health Risk | Likely pathogenic | — |
| RS1057523999 | Health Risk | Pathogenic | — |
| RS1131690799 | Health Risk | Pathogenic | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
| RS1199625391 | Health Risk | Pathogenic | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
| RS1383515185 | Health Risk | Pathogenic | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
| RS1420063863 | Health Risk | Pathogenic | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
| RS1562458862 | Health Risk | Pathogenic | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
| RS1562458915 | Health Risk | Pathogenic | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
| RS1583595091 | Health Risk | Pathogenic | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
| RS1784284453 | Health Risk | Pathogenic | — |
| RS1785136884 | Health Risk | Pathogenic | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
| RS1785303618 | Health Risk | Pathogenic | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
| RS199632531 | Health Risk | Pathogenic | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
| RS2128409409 | Health Risk | Pathogenic | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
| RS2483563364 | Health Risk | Pathogenic | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
| RS387907236 | Health Risk | Pathogenic | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
| RS751547630 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS752239703 | Health Risk | Pathogenic | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
| RS756065709 | Health Risk | Pathogenic | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
| RS758745099 | Health Risk | Pathogenic | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
| RS759351997 | Health Risk | Pathogenic | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
| RS761658541 | Health Risk | Pathogenic | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
| RS767780913 | Health Risk | Pathogenic | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
| RS780275814 | Health Risk | Pathogenic | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
| RS780664696 | Health Risk | Pathogenic | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |