Multiple mitochondrial dysfunctions syndrome 4: genes and variants
Multiple mitochondrial dysfunctions syndrome 4 is linked to 1 analyzed protein (ISCA2). 1 DNA variants are known to cause it; 7 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Also known as: Multiple mitochondrial dysfunctions syndrome 10
Genes linked to Multiple mitochondrial dysfunctions syndrome 4
ISCA2: Iron-sulfur cluster assembly 2 homolog, mitochondrial
1 disease-causing and 7 uncertain variants in ISCA2 are linked to Multiple mitochondrial dysfunctions syndrome 4.
Weakly linked (only a few uncertain records): TMEM127.
Known disease-causing variants in Multiple mitochondrial dysfunctions syndrome 4
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| ISCA2 G77S | 77 | Disease-causing (★★) |
Frequently asked questions
Which genes are linked to Multiple mitochondrial dysfunctions syndrome 4?
In CATVariant, Multiple mitochondrial dysfunctions syndrome 4 is linked to 1 analyzed protein: ISCA2 (Iron-sulfur cluster assembly 2 homolog, mitochondrial).
How many genetic variants are linked to Multiple mitochondrial dysfunctions syndrome 4?
11 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 7 are of uncertain significance or have conflicting reports.
Which uncertain variants in Multiple mitochondrial dysfunctions syndrome 4 look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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