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25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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MMS19
MMS19 cytosolic iron-sulfur assembly component
Chromosome 10 · 10q24.1
NCBI Gene: 64210Ensembl: ENSG00000155229.22HGNC: HGNC:13824UniProt: Q96T76
157PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
DNA RepairTranscription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
transcription coactivator activityprotein bindingprotein maturationnucleusplacental retentionneurodegenerative diseaseliver diseaserespiratory system disease
✦AI Summary

MMS19 is a cytosolic iron-sulfur (Fe-S) cluster assembly component that functions as a critical adapter in the CIA (cytosolic iron-sulfur protein assembly) complex 1. Its primary role involves facilitating Fe-S cluster insertion into target proteins essential for DNA metabolism and genomic integrity, including ERCC2/XPD, FANCJ, and RTEL1 1. MMS19 enables nucleotide excision repair (NER), homologous recombination-mediated double-strand break repair, DNA replication, and RNA polymerase II transcription 23. The protein contains conserved HEAT repeat domains characteristic of multiprotein complex assembly factors 3. Beyond nuclear DNA repair, MMS19 supports mitotic spindle assembly and chromosome 10 through the MMXD complex and by facilitating Fe-S cluster transfer to the motor protein KIF4A 4. MMS19 also acts as an AF-1-specific transcriptional coactivator of estrogen receptor through its role in TFIIH-machinery Fe-S insertion 5. Mitochondrial localization of MMS19 protects mtDNA from oxidative damage 6. Clinically, inherited MMS19 deficiency causes severe neurodegenerative disease with microcephaly, brain malformations, and progressive neurologic decline, reflecting the critical importance of Fe-S enzyme maturation in human development 7. These findings suggest MMS19 represents a therapeutic target for diseases involving Fe-S cluster assembly dysfunction.

Sources cited
1
MMS19 is a key component of the CIA complex that mediates Fe-S cluster incorporation into apoproteins involved in DNA metabolism and genomic integrity
PMID: 29848660
2
MMS19 is required for both nucleotide excision repair (NER) and RNA polymerase II transcription, affecting TFIIH activity
PMID: 8943333
3
Human MMS19 functionally complements yeast mutants; contains conserved HEAT repeat domains suggesting multiprotein complex assembly role
PMID: 11328871
4
Human MMS19 acts as an AF-1-specific transcriptional coactivator of estrogen receptor through its role in TFIIH-machinery Fe-S insertion
PMID: 11279242
5
MMS19 promotes spindle microtubule assembly and stability in mitotic cells through both kinase-dependent and direct microtubule-binding mechanisms
PMID: 33211700
6
Inherited MMS19 deficiency causes severe neurodegenerative disease with microcephaly, brain malformations, and fatal outcome due to cytosolic Fe-S cluster protein assembly disorders
PMID: 38411040
7
MMS19 localizes to the inner mitochondrial membrane and protects mtDNA from oxidative damage through interaction with ANT2
PMID: 29035693
Disease Associationsⓘ20
placental retentionOpen Targets
0.28Weak
neurodegenerative diseaseOpen Targets
0.24Weak
liver diseaseOpen Targets
0.12Weak
respiratory system diseaseOpen Targets
0.10Weak
multinodular goiterOpen Targets
0.05Suggestive
pneumothoraxOpen Targets
0.02Suggestive
Reunion island Larsen syndromeOpen Targets
0.02Suggestive
Reunion Island's Larsen syndromeOpen Targets
0.02Suggestive
breast cancerOpen Targets
0.02Suggestive
pleural empyemaOpen Targets
0.02Suggestive
esophageal squamous cell carcinomaOpen Targets
0.02Suggestive
non-small cell lung carcinomaOpen Targets
0.01Suggestive
systemic juvenile idiopathic arthritisOpen Targets
0.01Suggestive
xeroderma pigmentosum group DOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
hyperinsulinemic hypoglycemia, familial, 4Open Targets
0.01Suggestive
Cowden syndrome 1Open Targets
0.00Suggestive
gliomaOpen Targets
0.00Suggestive
xeroderma pigmentosumOpen Targets
0.00Suggestive
squamous cell carcinomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
NFU1Shared pathway100%ISCA2Shared pathway100%ISCA1Shared pathway100%NUBP1Protein interaction100%CIAPIN1Protein interaction100%CIAO3Protein interaction100%
Tissue Expression6 tissues
Ovary
100%
Lung
94%
Heart
80%
Bone Marrow
68%
Liver
58%
Brain
35%
Gene Interaction Network
Click a node to explore
MMS19NFU1ISCA2ISCA1NUBP1CIAPIN1CIAO3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q96T76
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.79LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.65 [0.53–0.79]
RankingsWhere MMS19 stands among ~20K protein-coding genes
  • #2,867of 20,598
    Most Researched157 · top quartile
  • #6,482of 17,882
    Most Constrained (LOEUF)0.79
Genes detectedMMS19
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
Reactivating PTEN to impair glioma stem cells by inhibiting cytosolic iron-sulfur assembly.
PMID: 38507470
Sci Transl Med · 2024
1.00
2
Dual requirement for the yeast MMS19 gene in DNA repair and RNA polymerase II transcription.
PMID: 8943333
Mol Cell Biol · 1996
0.90
3
Cloning the human and mouse MMS19 genes and functional complementation of a yeast mms19 deletion mutant.
PMID: 11328871
Nucleic Acids Res · 2001
0.80
4
Cloning of a human homolog of the yeast nucleotide excision repair gene MMS19 and interaction with transcription repair factor TFIIH via the XPB and XPD helicases.
PMID: 11071939
Nucleic Acids Res · 2000
0.72
5
The human homologue of the yeast DNA repair and TFIIH regulator MMS19 is an AF-1-specific coactivator of estrogen receptor.
PMID: 11279242
J Biol Chem · 2001
0.70