HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SLC30A9
solute carrier family 30 member 9
Chromosome 4 Β· 4p13
NCBI Gene: 10463Ensembl: ENSG00000014824.15HGNC: HGNC:1329UniProt: A0A0S2Z512
57PubMed Papers
21Diseases
0Drugs
6Pathogenic Variants
FUNCTIONAL ROLE
Transcription FactorTransporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
zinc ion transmembrane transporter activityzinc ion transportendoplasmic reticulumnucleuspsychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndromegenetic disorderneurodegenerative diseasemajor depressive disorder
✦AI Summary

SLC30A9 (solute carrier family 30 member 9) is a mitochondrial proton-coupled zinc ion antiporter that mediates zinc export from mitochondria and maintains intracellular zinc homeostasis 1. The protein is evolutionarily conserved and coevolves with oxidative phosphorylation machinery 2. SLC30A9 is critical for mitochondrial integrity and function; its loss impairs mitochondrial complex I activity, membrane potential, and ATP production while disrupting mitochondrial morphology 31. In mammals, germline SLC30A9 loss causes midgestational lethality with severe developmental abnormalities, while brain-specific knockout results in dwarfism and growth hormone/IGF-1 pathway dysfunction 3. Pathogenic SLC30A9 variants cause Birk-Landau-Perez syndrome, an autosomal recessive disorder characterized by progressive hyperkinetic movement disorder, oculomotor apraxia, and ptosis 4. Beyond mitochondrial functions, SLC30A9 acts as a nuclear coactivator for transcriptional regulation of Wnt-responsive genes. Dysregulation of SLC30A9 contributes to cervical cancer and diffuse large B-cell lymphoma progression through enhanced mitochondrial hyperfunction and altered metabolic signaling 56. Emerging evidence links SLC30A9 variants to severe diabetic retinopathy in type 1 diabetes 7, suggesting broader metabolic disease relevance.

Sources cited
1
SLC30A9 linked to mitochondrial ribosomes, OxPhos integrity, and mitochondrial dysfunction
PMID: 35614220
2
SLC30A9 coevolves with mitochondrial oxidative phosphorylation components; acts as mitochondrial zinc exporter
PMID: 34397090
3
ZnT9/SLC30A9 is evolutionarily conserved; germline loss causes embryonic lethality; mitochondrial zinc dyshomeostasis impairs respiration complex activity
PMID: 39158587
4
SLC30A9 biallelic variants cause Birk-Landau-Perez syndrome with progressive hyperkinetic movement disorder, oculomotor apraxia, and ptosis
PMID: 37041080
5
SLC30A9 overexpression promotes cervical cancer malignancy via mitochondrial hyperfunction and is regulated by PRDM1 transcription factor
PMID: 41419464
6
NAT10-mediated acetylation of SLC30A9 regulates DLBCL progression through AMPK/mTOR signaling
PMID: 38961519
7
SLC30A9 variants associated with severe diabetic retinopathy in type 1 diabetes through gene aggregate analysis
PMID: 41129127
Disease Associationsβ“˜21
psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndromeOpen Targets
0.73Strong
genetic disorderOpen Targets
0.47Moderate
neurodegenerative diseaseOpen Targets
0.41Moderate
major depressive disorderOpen Targets
0.38Weak
bipolar disorderOpen Targets
0.33Weak
Abnormality of the skeletal systemOpen Targets
0.32Weak
autism spectrum disorderOpen Targets
0.26Weak
attention deficit hyperactivity disorderOpen Targets
0.26Weak
obsessive-compulsive disorderOpen Targets
0.26Weak
anorexia nervosaOpen Targets
0.24Weak
schizophreniaOpen Targets
0.24Weak
Tourette syndromeOpen Targets
0.24Weak
ovarian neoplasmOpen Targets
0.20Weak
insomniaOpen Targets
0.14Weak
ankylosing spondylitisOpen Targets
0.12Weak
lysosomal storage diseaseOpen Targets
0.11Weak
cervical cancerOpen Targets
0.07Suggestive
diffuse large B-cell lymphomaOpen Targets
0.07Suggestive
alcohol drinkingOpen Targets
0.05Suggestive
cancerOpen Targets
0.04Suggestive
Birk-Landau-Perez syndromeUniProt
Pathogenic Variants6
NM_006345.4(SLC30A9):c.86_87dup (p.Cys30fs)Pathogenic
Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 30
NM_006345.4(SLC30A9):c.143C>A (p.Ser48Ter)Pathogenic
Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
β˜…β˜†β˜†β˜†2025β†’ Residue 48
NM_006345.4(SLC30A9):c.841-1G>ALikely pathogenic
Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
β˜…β˜†β˜†β˜†2024
NM_006345.4(SLC30A9):c.1049_1051del (p.Ala350del)Pathogenic
Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
β˜…β˜†β˜†β˜†2023β†’ Residue 350
NM_006345.4(SLC30A9):c.543G>A (p.Trp181Ter)Likely pathogenic
Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
β˜…β˜†β˜†β˜†2022β†’ Residue 181
NM_006345.4(SLC30A9):c.840+1G>ALikely pathogenic
Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
β˜…β˜†β˜†β˜†2022
View on ClinVar β†—
Related Genes
ACADMProtein interaction81%SLC39A7Protein interaction80%SLC30A7Protein interaction78%SLC39A6Protein interaction76%SLC39A10Protein interaction76%SLC39A14Protein interaction75%
Tissue Expression6 tissues
Heart
100%
Brain
80%
Ovary
32%
Bone Marrow
31%
Liver
28%
Lung
25%
Gene Interaction Network
Click a node to explore
SLC30A9ACADMSLC39A7SLC30A7SLC39A6SLC39A10SLC39A14
PROTEIN STRUCTURE
Preparing viewer…
PDB2ENK Β· NMR
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.59Moderately Constrained
pLIβ“˜
0.84Intermediate
Observed/Expected LoF0.34 [0.20–0.59]
RankingsWhere SLC30A9 stands among ~20K protein-coding genes
  • #8,013of 20,598
    Most Researched57
  • #3,387of 5,498
    Most Pathogenic Variants6
  • #3,965of 17,882
    Most Constrained (LOEUF)0.59 Β· top quartile
Genes detectedSLC30A9
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Defining mitochondrial protein functions through deep multiomic profiling.
PMID: 35614220
Nature Β· 2022
1.00
2
SLC30A9: an evolutionarily conserved mitochondrial zinc transporter essential for mammalian early embryonic development.
PMID: 39158587
Cell Mol Life Sci Β· 2024
0.90
3
PRDM1-driven SLC30A9 overexpression contributes to the malignant phenotype of cervical cancer cells via promoting mitochondrial hyperfunction.
PMID: 41419464
Cell Death Dis Β· 2025
0.80
4
N-acetyltransferase 10 facilitates tumorigenesis of diffuse large B-cell lymphoma by regulating AMPK/mTOR signalling through N4-acetylcytidine modification of SLC30A9.
PMID: 38961519
Clin Transl Med Β· 2024
0.70
5
Evolutionary rate covariation identifies SLC30A9 (ZnT9) as a mitochondrial zinc transporter.
PMID: 34397090
Biochem J Β· 2021
0.60