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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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MARCHF6
membrane associated ring-CH-type finger 6
Chromosome 5 Β· 5p15.2
NCBI Gene: 10299Ensembl: ENSG00000145495.18HGNC: HGNC:30550UniProt: O60337
61PubMed Papers
21Diseases
0Drugs
2Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
ubiquitin-protein transferase activityprotein bindingproteasome-mediated ubiquitin-dependent protein catabolic processnegative regulation of cholesterol biosynthetic processbenign adult familial myoclonic epilepsyepilepsy, familial adult myoclonicbenign urinary system neoplasmLung Abscess
✦AI Summary

MARCHF6 is an endoplasmic reticulum (ER) membrane-embedded E3 ubiquitin ligase that functions as a metabolic integrator regulating cholesterol synthesis, lipid homeostasis, and ferroptosis 1. It operates through two major degradation pathways: the Ac/N-degron pathway, recognizing N-terminally acetylated substrates like RGS2 and PLIN2, and the ER-associated protein degradation (ERAD-C) pathway for misfolded proteins 2. MARCHF6 coordinates cholesterol homeostasis by ubiquitinating multiple cholesterol synthesis enzymes including HMGCR, SQLE, and CYP51A1 13. Notably, MARCHF6 functions as an NADPH sensor that prevents ferroptosis during lipid peroxidation by degrading pro-ferroptotic and anti-ferroptotic substrates 42. In hypoxia, MARCHF6 stabilizes SREBP2, promoting cholesterol uptake over synthesis and protecting tumor cells from statin toxicity 3. Clinically, MARCHF6 is associated with familial adult myoclonus epilepsy (FAME), where intronic TTTTA/TTTCA repeat expansions cause cortical myoclonus; smaller numbers of TTTCA repeats correlate with later disease onset 56. Its role as a NADPH sensor linking oxidative stress to metabolic adaptation positions MARCHF6 as a potential therapeutic target for ferroptosis-related diseases including neurodegeneration and cancer 4.

Sources cited
1
MARCHF6 is an ER-embedded E3 ubiquitin ligase acting as metabolic integrator in cholesterol synthesis with substrates in sterol/lipid metabolism
PMID: 33049405
2
MARCHF6 recognizes Ac/N-degron bearing substrates and regulates ferroptosis through fine-tuning of pro- and anti-ferroptotic proteins
PMID: 40643475
3
MARCHF6 functions as an NADPH sensor in the ubiquitin system and is a critical regulator of ferroptosis in tumorigenesis and fetal development
PMID: 37558595
4
MARCHF6 controls SREBP2 stability through NADPH-mediated activation in hypoxia, regulating cholesterol synthesis independent of HIF signaling
PMID: 37558666
5
MARCHF6 repeat expansions cause familial adult myoclonus epilepsy (FAME) with regional geographical distributions
PMID: 37021642
6
MARCHF6 TTTTA/TTTCA repeat expansions containing 5-11 TTTCA repeats cause cortical myoclonus without seizures, with inverse correlation between TTTCA repeat number and age at onset
PMID: 40200849
7
Hypoxia increases MARCHF6 stabilization leading to squalene monooxygenase truncation and constitutive activation during hypoxia
PMID: 36655986
Disease Associationsβ“˜21
benign adult familial myoclonic epilepsyOpen Targets
0.58Moderate
epilepsy, familial adult myoclonicOpen Targets
0.37Weak
benign urinary system neoplasmOpen Targets
0.13Weak
bronchopneumoniaOpen Targets
0.12Weak
Lung AbscessOpen Targets
0.12Weak
hepatocellular carcinomaOpen Targets
0.07Suggestive
thyroid cancerOpen Targets
0.07Suggestive
acute kidney injuryOpen Targets
0.06Suggestive
papillary thyroid carcinomaOpen Targets
0.05Suggestive
obesity due to leptin receptor gene deficiencyOpen Targets
0.03Suggestive
hypertensionOpen Targets
0.03Suggestive
poisoningOpen Targets
0.03Suggestive
response to xenobiotic stimulusOpen Targets
0.03Suggestive
epilepsyOpen Targets
0.02Suggestive
alcohol drinkingOpen Targets
0.02Suggestive
cardiac hypertrophyOpen Targets
0.02Suggestive
cornea transplantationOpen Targets
0.02Suggestive
gliomaOpen Targets
0.02Suggestive
Chronic painOpen Targets
0.02Suggestive
viral diseaseOpen Targets
0.01Suggestive
Epilepsy, familial adult myoclonic, 3UniProt
Pathogenic Variants2
NC_000005.10:g.10356348_10356407TTTTA[(9_?)]TTTCA[(791_1035)]Pathogenic
Epilepsy, familial adult myoclonic, 3
β˜†β˜†β˜†β˜†2022
NM_005885.4(MARCHF6):c.19+2427TTTAT[641]Pathogenic
Epilepsy, familial adult myoclonic, 3
β˜†β˜†β˜†β˜†2019
View on ClinVar β†—
Related Genes
OS9Protein interaction100%VCPProtein interaction99%ERLEC1Protein interaction99%DERL1Protein interaction99%DERL3Protein interaction96%UBE2J1Protein interaction96%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
85%
Ovary
49%
Heart
40%
Lung
39%
Liver
29%
Gene Interaction Network
Click a node to explore
MARCHF6OS9VCPERLEC1DERL1DERL3UBE2J1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt O60337
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.31Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.21 [0.15–0.31]
RankingsWhere MARCHF6 stands among ~20K protein-coding genes
  • #7,575of 20,598
    Most Researched61
  • #4,403of 5,498
    Most Pathogenic Variants2
  • #1,248of 17,882
    Most Constrained (LOEUF)0.31 Β· top 10%
Genes detectedMARCHF6
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
The E3 ubiquitin ligase MARCHF6 as a metabolic integrator in cholesterol synthesis and beyond.
PMID: 33049405
Biochim Biophys Acta Mol Cell Biol Lipids Β· 2021
1.00
2
The Ac/N-Degron Domain of MARCHF6 E3 Ubiquitin Ligase and Its Role in Regulating Ferroptosis.
PMID: 40643475
Cells Β· 2025
0.90
3
The ubiquitin-proteasome system links NADPH metabolism to ferroptosis.
PMID: 37558595
Trends Cell Biol Β· 2023
0.80
4
A HIF independent oxygen-sensitive pathway for controlling cholesterol synthesis.
PMID: 37558666
Nat Commun Β· 2023
0.70
5
Genetics of familial adult myoclonus epilepsy: From linkage studies to noncoding repeat expansions.
PMID: 37021642
Epilepsia Β· 2023
0.60