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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.
SFXN4
sideroflexin 4
Chromosome 10 Β· 10q26.11
NCBI Gene: 119559Ensembl: ENSG00000183605.18HGNC: HGNC:16088UniProt: Q6P4A7
67PubMed Papers
21Diseases
0Drugs
14Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
mitochondrionmitochondrial transmembrane transportmitochondrial inner membranetransmembrane transporter activitygrowth and developmental delay-hypotonia-vision impairment-lactic acidosis syndromecombined oxidative phosphorylation defect type 15neurodegenerative diseasegenetic disorder
✦AI Summary

SFXN4 (sideroflexin 4) is a mitochondrial inner membrane transporter belonging to the SLC56 family that plays a critical role in iron-sulfur (Fe-S) cluster biogenesis and mitochondrial iron homeostasis 1. Unlike other family members SFXN1 and SFXN3, SFXN4 does not function as a serine transporter but instead facilitates mitochondrial iron regulation 1. SFXN4 is essential for maintaining Fe-S cluster stability and availability to respiratory complexes; its loss impairs mitochondrial respiration and shifts metabolism toward glycolysis 2. SFXN4 knockdown also affects heme biosynthesis by reducing ferrochelatase and ALAS2 translation, while redistributing iron from cytosol to mitochondria via the aconitase-IRP1 switch 2. Clinically, biallelic SFXN4 mutations cause combined oxidative phosphorylation deficiency presenting as mitochondrial disease with macrocytic anemia and megaloblastic features 3. Prenatal presentations include intrauterine growth retardation, neonatal lactic acidosis, complex I deficiency, and optic nerve hypoplasia 4. Beyond monogenic disease, SFXN4 dysregulation associates with cancer progression: elevated SFXN4 promotes osteosarcoma and hepatocellular carcinoma cell growth, migration, and invasion 56. In ovarian cancer, SFXN4 inhibition synergistically sensitizes resistant cells to DNA-damaging chemotherapy and PARP inhibitors by simultaneously impairing Fe-S-dependent DNA repair and inducing oxidative stress 7.

Sources cited
1
SFXN4 is a mitochondrial transmembrane protein implicated in iron regulation and heme biosynthesis; unlike SFXN1/SFXN3, it does not transport serine
PMID: 40542427
2
SFXN4 is essential for Fe-S cluster biogenesis, mitochondrial respiration, and heme synthesis; its loss impairs respiratory complexes and causes metabolic shift to glycolysis
PMID: 31873120
3
Biallelic SFXN4 mutations cause mitochondriopathy with macrocytic anemia and impaired mitochondrial respiration
PMID: 24119684
4
SFXN4 deficiency presents with prenatal onset mitochondrial disease, complex I deficiency, lactic acidosis, and macrocytic anemia
PMID: 31059822
5
SFXN4 is highly expressed in osteosarcoma and promotes cell growth, migration, and invasion
PMID: 39569192
6
SFXN4 is elevated in hepatocellular carcinoma, correlates with poor prognosis, and promotes HCC proliferation, migration, and invasion
PMID: 37786439
7
SFXN4 inhibition impairs Fe-S cluster biogenesis, causing oxidative stress and DNA repair deficiency, sensitizing ovarian cancer cells to chemotherapy and PARP inhibitors
PMID: 36402786
Disease Associationsβ“˜21
growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndromeOpen Targets
0.75Strong
combined oxidative phosphorylation defect type 15Open Targets
0.54Moderate
neurodegenerative diseaseOpen Targets
0.53Moderate
genetic disorderOpen Targets
0.41Moderate
mitochondrial diseaseOpen Targets
0.37Weak
nephritisOpen Targets
0.28Weak
NephropathyOpen Targets
0.27Weak
hepatocellular carcinomaOpen Targets
0.08Suggestive
ovarian cancerOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.07Suggestive
transient myeloproliferative syndromeOpen Targets
0.05Suggestive
vertebral column disorderOpen Targets
0.05Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.04Suggestive
pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9Open Targets
0.04Suggestive
colorectal carcinomaOpen Targets
0.04Suggestive
cancerOpen Targets
0.04Suggestive
reticular dysgenesisOpen Targets
0.03Suggestive
prostate cancerOpen Targets
0.03Suggestive
osteosarcomaOpen Targets
0.03Suggestive
Abnormality of the skeletal systemOpen Targets
0.02Suggestive
Combined oxidative phosphorylation deficiency 18UniProt
Pathogenic Variants14
NM_213649.2(SFXN4):c.930del (p.Ile310fs)Pathogenic
Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 310
NM_213649.2(SFXN4):c.471+1G>APathogenic
Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome|not provided
β˜…β˜…β˜†β˜†2022
NM_213649.2(SFXN4):c.649C>T (p.Arg217Ter)Pathogenic
Inborn genetic diseases|Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
β˜…β˜…β˜†β˜†2020β†’ Residue 217
NM_213649.2(SFXN4):c.325C>T (p.Arg109Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 109
NM_213649.2(SFXN4):c.361-2A>TLikely pathogenic
Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
β˜…β˜†β˜†β˜†2024
NM_213649.2(SFXN4):c.818+2T>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2023
NM_213649.2(SFXN4):c.668del (p.Lys223fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 223
NM_213649.2(SFXN4):c.819-1G>CLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2022
NM_213649.2(SFXN4):c.368T>A (p.Leu123Ter)Pathogenic
Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
β˜…β˜†β˜†β˜†2020β†’ Residue 123
NM_213649.2(SFXN4):c.233del (p.Pro78fs)Pathogenic
Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
β˜…β˜†β˜†β˜†2019β†’ Residue 78
NM_213649.2(SFXN4):c.940C>T (p.Gln314Ter)Pathogenic
Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
β˜…β˜†β˜†β˜†2019β†’ Residue 314
NM_213649.2(SFXN4):c.414+1G>APathogenic
Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
β˜…β˜†β˜†β˜†2017
NM_213649.2(SFXN4):c.823C>T (p.Gln275Ter)Likely pathogenic
Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
β˜…β˜†β˜†β˜†β†’ Residue 275
NM_213649.2(SFXN4):c.739dup (p.Arg247fs)Pathogenic
Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
β˜†β˜†β˜†β˜†2013β†’ Residue 247
View on ClinVar β†—
Related Genes
SFXN2Shared pathway100%SFXN5Shared pathway75%LASP1Shared pathway67%SFXN3Shared pathway60%PLP2Shared pathway40%TPTEShared pathway40%
Tissue Expression6 tissues
Heart
100%
Liver
87%
Bone Marrow
49%
Ovary
48%
Brain
32%
Lung
26%
Gene Interaction Network
Click a node to explore
SFXN4SFXN2SFXN5LASP1SFXN3PLP2TPTE
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q6P4A7
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.14LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.84 [0.62–1.14]
RankingsWhere SFXN4 stands among ~20K protein-coding genes
  • #7,017of 20,598
    Most Researched67
  • #2,519of 5,498
    Most Pathogenic Variants14
  • #11,812of 17,882
    Most Constrained (LOEUF)1.14
Genes detectedSFXN4
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
A novel hypoxia- and lactate metabolism-related prognostic signature to characterize the immune landscape and predict immunotherapy response in osteosarcoma.
PMID: 39569192
Front Immunol Β· 2024
1.00
2
Update of the sideroflexin (SLC56) gene family.
PMID: 40542427
Hum Genomics Β· 2025
0.90
3
Complementary anti-cancer pathways triggered by inhibition of sideroflexin 4 in ovarian cancer.
PMID: 36402786
Sci Rep Β· 2022
0.80
4
Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4.
PMID: 24119684
Am J Hum Genet Β· 2013
0.70
5
Comprehensive Analysis of Sideroflexin 4 in Hepatocellular Carcinoma by Bioinformatics and Experiments.
PMID: 37786439
Int J Med Sci Β· 2023
0.60