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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SERAC1
serine active site containing 1
Chromosome 6 Β· 6q25.3
NCBI Gene: 84947Ensembl: ENSG00000122335.18HGNC: HGNC:21061UniProt: Q96JX3
35PubMed Papers
21Diseases
0Drugs
58Pathogenic Variants
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
intracellular cholesterol transportmitochondrionphosphatidylglycerol acyl-chain remodelingmitochondria-associated endoplasmic reticulum membrane contact site3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndromeMEGDEL syndromegenetic disorderLeigh syndrome
✦AI Summary

SERAC1 (serine active site containing 1) is a mitochondrial protein localized at the mitochondria-endoplasmic reticulum interface that performs two critical functions in cellular metabolism. First, SERAC1 facilitates mitochondrial serine transport by stabilizing the serine transporter SFXN1, enabling cytosolic serine import essential for the one-carbon cycle and nucleotide synthesis required for mitochondrial DNA replication 1. Second, SERAC1 mediates phosphatidylglycerol (PG) remodeling by exchanging sn-1 acyl chains from PG 16:0/18:1 to PG 18:0/18:1, maintaining proper mitochondrial membrane composition and intracellular cholesterol trafficking 2. Biallelic SERAC1 mutations cause MEGDEL syndrome (3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome), an autosomal recessive mitochondrial disorder affecting the brain, ears, and multiple organs 3. Loss of SERAC1 function impairs nucleotide homeostasis, causing primary mitochondrial DNA depletion and defective oxidative phosphorylation 1. Additionally, disrupted PG remodeling leads to cardiolipin abnormalities and free cholesterol accumulation 2. Over 102 MEGDEL patients have been reported with variable phenotypes and typically poor outcomes, though nucleotide supplementation may offer therapeutic potential 31.

Sources cited
1
SERAC1 interacts with SFXN1 to facilitate serine transport from cytosol to mitochondria, supporting the one-carbon cycle and nucleotide synthesis for mtDNA maintenance
PMID: 35235340
2
SERAC1 localizes to mitochondria-ER interface and mediates phosphatidylglycerol remodeling essential for mitochondrial function and cholesterol trafficking
PMID: 22683713
3
SERAC1 mutations cause MEGDEL syndrome characterized by 3-methylglutaconic aciduria, psychomotor delay, sensorineural deafness, and Leigh-like lesions; at least 102 cases reported with broad phenotypic spectrum
PMID: 32684373
4
SERAC1 mutations affect mitochondrial phospholipid metabolism and cause abnormal mitochondrial energy metabolism through disturbed protein-lipid interactions
PMID: 25082432
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndromeOpen Targets
0.82Strong
MEGDEL syndromeOpen Targets
0.72Strong
genetic disorderOpen Targets
0.47Moderate
Leigh syndromeOpen Targets
0.40Weak
DystoniaOpen Targets
0.37Weak
HypoglycemiaOpen Targets
0.37Weak
Abruptio PlacentaeOpen Targets
0.29Weak
mitochondrial oxidative phosphorylation disorderOpen Targets
0.27Weak
SERAC1-related neurological disorderOpen Targets
0.27Weak
Sensorineural hearing impairmentOpen Targets
0.19Weak
hearing lossOpen Targets
0.18Weak
age-related hearing impairmentOpen Targets
0.14Weak
colorectal cancerOpen Targets
0.14Weak
hypopituitarismOpen Targets
0.13Weak
diaphragm diseaseOpen Targets
0.10Suggestive
placenta praeviaOpen Targets
0.06Suggestive
acyl-CoA dehydrogenase 9 deficiencyOpen Targets
0.04Suggestive
Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiencyOpen Targets
0.04Suggestive
carnitine palmitoyl transferase II deficiency, severe infantile formOpen Targets
0.04Suggestive
mitochondrial complex IV deficiency, nuclear type 22Open Targets
0.04Suggestive
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndromeUniProt
Pathogenic Variants58
NM_032861.4(SERAC1):c.202C>T (p.Arg68Ter)Pathogenic
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 68
NM_032861.4(SERAC1):c.1493G>C (p.Ser498Thr)Pathogenic
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome|not provided|SERAC1-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 498
NM_032861.4(SERAC1):c.1126C>T (p.Gln376Ter)Pathogenic
not provided|3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 376
NM_032861.4(SERAC1):c.308_311del (p.Arg103fs)Pathogenic
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 103
NM_032861.4(SERAC1):c.1643_1646dup (p.Leu550fs)Pathogenic
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 550
NM_032861.4(SERAC1):c.1339C>T (p.Arg447Ter)Pathogenic
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 447
NM_032861.4(SERAC1):c.236_237del (p.Thr79fs)Pathogenic
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 79
NM_032861.4(SERAC1):c.1822_1828+10delinsACCAACAGGPathogenic
not provided|3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome|SERAC1-related disorder
β˜…β˜…β˜†β˜†2025
NM_032861.4(SERAC1):c.262_265dup (p.Gly89fs)Pathogenic
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
β˜…β˜…β˜†β˜†2024β†’ Residue 89
NM_032861.4(SERAC1):c.438del (p.Thr147fs)Pathogenic
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
β˜…β˜…β˜†β˜†2024β†’ Residue 147
NM_032861.4(SERAC1):c.442C>T (p.Arg148Ter)Pathogenic
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 148
NM_032861.4(SERAC1):c.1102C>T (p.Arg368Ter)Pathogenic
not provided|3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
β˜…β˜…β˜†β˜†2023β†’ Residue 368
NM_032861.4(SERAC1):c.227_228dup (p.Val77fs)Pathogenic
not provided|3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
β˜…β˜…β˜†β˜†2022β†’ Residue 77
NM_032861.4(SERAC1):c.1167_1170delPathogenic
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
β˜…β˜…β˜†β˜†2022
NM_032861.4(SERAC1):c.1159C>T (p.Arg387Ter)Pathogenic
not provided|3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
β˜…β˜…β˜†β˜†2022β†’ Residue 387
NM_032861.4(SERAC1):c.1501+3_1501+6delLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2026
NM_032861.4(SERAC1):c.1403+297_1403+298delLikely pathogenic
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
β˜…β˜†β˜†β˜†2025
NM_032861.4(SERAC1):c.92-1G>ALikely pathogenic
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
β˜…β˜†β˜†β˜†2025
NM_032861.4(SERAC1):c.733C>T (p.Gln245Ter)Pathogenic
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
β˜…β˜†β˜†β˜†2025β†’ Residue 245
NM_032861.4(SERAC1):c.548G>A (p.Arg183Gln)Likely pathogenic
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 183
View on ClinVar β†—
Related Genes
RELCHShared pathway50%TSPO2Shared pathway33%GRAMD1CShared pathway33%GRAMD1AShared pathway33%STARD4Shared pathway25%CRLS1Shared pathway25%
Tissue Expression6 tissues
Brain
100%
Lung
50%
Heart
48%
Ovary
44%
Liver
42%
Bone Marrow
25%
Gene Interaction Network
Click a node to explore
SERAC1RELCHTSPO2GRAMD1CGRAMD1ASTARD4CRLS1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q96JX3
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.68LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.51 [0.38–0.68]
RankingsWhere SERAC1 stands among ~20K protein-coding genes
  • #11,062of 20,598
    Most Researched35
  • #1,205of 5,498
    Most Pathogenic Variants58 Β· top quartile
  • #5,077of 17,882
    Most Constrained (LOEUF)0.68
Genes detectedSERAC1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
MEGDEL Syndrome.
PMID: 32684373
Pediatr Neurol Β· 2020
1.00
2
SERAC1 is a component of the mitochondrial serine transporter complex required for the maintenance of mitochondrial DNA.
PMID: 35235340
Sci Transl Med Β· 2022
0.90
3
PMID: 24741715
0.80
4
New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.
PMID: 27290639
J Transl Med Β· 2016
0.70
5
[Two cases of MEGDEL syndrome due to variants of SERAC1 gene and a literature review].
PMID: 37643955
Zhonghua Yi Xue Yi Chuan Xue Za Zhi Β· 2023
0.60